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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT6C

KRT6C

117 papers

RefSeq Summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are cluster...

Pfam Domains

Keratin_2_headaa 17–159UCSCKeratin type II head

Filamentaa 162–475UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 6C

HGNC Previous Symbol

KRT6E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 108 variants

6 papers

chr12:52473219 CTTG>C

NM_173086.5

p.N172_K173del1

c.516_518delTTG

Filament

exact variant not in gnomAD31 overlapping SVs

3 papers

chr12:52473676 T>C

NM_173086.5

p.N21S

c.62A>G

Keratin_2_head

Exome: 0.2% (AC=3333, hom=1)Genome: 0.3% (AC=422, hom=0)31 overlapping SVs

3 papers

chr12:52473476 C>G

NM_173086.5

p.G88R

c.262G>C

Keratin_2_head

exact variant not in gnomAD31 overlapping SVs

3 papers

chr12:52473476 C>T

NM_173086.5

p.G88R

c.262G>A

Keratin_2_head

Exome: 31.2% (AC=390537, hom=48433)Genome: 20.8% (AC=26344, hom=2374)31 overlapping SVs

3 papers

chr12:52473406 C>T

NM_173086.5

p.G111D

c.332G>A

Keratin_2_head

Exome: 24.1% (AC=259340, hom=9322)Genome: 10.6% (AC=10851, hom=148)31 overlapping SVs

3 papers

chr12:52473321 G>A

NM_173086.5

p.T139T

c.417C>T

Keratin_2_head

Exome: 28.0% (AC=282988, hom=89674)Genome: 38.1% (AC=35761, hom=8146)31 overlapping SVs

3 papers

chr12:52469680 C>T

NM_173086.5

p.E472K

c.1414G>A

Filament

Exome: 0.0% (AC=3, hom=0)Genome: n/a30 overlapping SVs

2 papers

chr12:52473736 A>G

NM_173086.5

p.M1T

c.2T>C

Exome: 0.1% (AC=1820, hom=29)Genome: 0.1% (AC=88, hom=1)31 overlapping SVs

2 papers

chr12:52472276 C>T

NM_173086.5

p.R182Q

c.545G>A

Filament

Exome: 54.7% (AC=690650, hom=269649)Genome: 43.3% (AC=57275, hom=19455)33 overlapping SVs

2 papers

chr12:52471258 G>T

NM_173086.5

p.S317S

c.951C>A

Filament

exact variant not in gnomAD31 overlapping SVs

2 papers

chr12:52469837 T>G

NM_173086.5

p.A419A

c.1257A>C

Filament

Exome: 56.7% (AC=828633, hom=238637)Genome: 50.3% (AC=76379, hom=20529)30 overlapping SVs

2 papers

chr12:52469688 A>G

NM_173086.5

p.L469P

c.1406T>C

Filament

exact variant not in gnomAD30 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."