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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT75

KRT75

131 papers

RefSeq Summary

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of ep...

Pfam Domains

Keratin_2_headaa 16–145UCSCKeratin type II head

Filamentaa 148–461UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 75

HGNC Alias Symbol

K6HF

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 90 variants

10 papers

chr12:52433824 C>T

NM_004693.3

p.A161T

c.481G>A

Filament

Exome: 11.1% (AC=162095, hom=9627)Genome: 13.9% (AC=21180, hom=1633)28 overlapping SVs

6 papers

chr12:52430567 C>T

NM_004693.3

p.E337K

c.1009G>A

Filament

Exome: 1.0% (AC=14900, hom=104)Genome: 0.6% (AC=983, hom=5)27 overlapping SVs

3 papers

chr12:52430620 A>T

NM_004693.3

p.I319N

c.956T>A

Filament

Exome: 0.0% (AC=531, hom=6)Genome: 0.3% (AC=398, hom=2)27 overlapping SVs

2 papers

chr12:52434034 T>C

NM_004693.3

p.R91G

c.271A>G

Keratin_2_head

Exome: 58.8% (AC=859512, hom=254607)Genome: 60.9% (AC=92551, hom=28341)28 overlapping SVs

2 papers

chr12:52434027 C>G

NM_004693.3

p.G93A

c.278G>C

Keratin_2_head

Exome: n/aGenome: 0.0% (AC=1, hom=0)28 overlapping SVs

2 papers

chr12:52434008 G>C

NM_004693.3

p.G99G

c.297C>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

2 papers

chr12:52433875 G>A

NM_004693.3

p.R144W

c.430C>T

Keratin_2_head

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

2 papers

chr12:52432055 T>C

NM_004693.3

p.E242G

c.725A>G

Filament

Exome: 0.1% (AC=1303, hom=24)Genome: 0.8% (AC=1174, hom=17)27 overlapping SVs

2 papers

chr12:52431579 G>A

NM_004693.3

p.P278P

c.834C>T

Filament

Exome: 58.8% (AC=858456, hom=254518)Genome: 61.0% (AC=92699, hom=28382)27 overlapping SVs

2 papers

chr12:52428474 A>G

NM_004693.3

p.C388C

c.1164T>C

Filament

Exome: 58.8% (AC=858153, hom=254028)Genome: 61.0% (AC=92673, hom=28394)27 overlapping SVs

2 papers

chr12:52428358 A>G

NM_004693.3

p.M427T

c.1280T>C

Filament

Exome: 1.1% (AC=16383, hom=648)Genome: 3.7% (AC=5675, hom=258)27 overlapping SVs

2 papers

chr12:52428352 C>G

NM_004693.3

p.R429P

c.1286G>C

Filament

Exome: 0.8% (AC=10896, hom=0)Genome: 0.0% (AC=9, hom=0)27 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."