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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT78

KRT78

74 papers

RefSeq Summary

This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasm...

Pfam Domains

Keratin_2_headaa 46–107UCSCKeratin type II head

Filamentaa 110–423UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 78

HGNC Alias Symbol

K5B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 62 variants

4 papers

chr12:52848656 A>G

NM_173352.4

p.L92P

c.275T>C

Keratin_2_head

Exome: 55.5% (AC=811169, hom=227503)Genome: 49.1% (AC=74641, hom=19161)30 overlapping SVs

2 papers

chr12:52848795 C>G

NM_173352.4

p.G46R

c.136G>C

Keratin_2_head

exact variant not in gnomAD30 overlapping SVs

2 papers

chr12:52848795 C>T

NM_173352.4

p.G46R

c.136G>A

Keratin_2_head

Exome: 8.4% (AC=123387, hom=5815)Genome: 8.8% (AC=13340, hom=687)30 overlapping SVs

2 papers

chr12:52848609 G>A

NM_173352.4

p.R108W

c.322C>T

Keratin_2_head

Exome: 0.0% (AC=137, hom=1)Genome: 0.1% (AC=104, hom=0)30 overlapping SVs

1 paper

chr12:52848929 A>G

NM_173352.4

p.M1T

c.2T>C

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=2, hom=0)30 overlapping SVs

1 paper

chr12:52848924 G>A

NM_173352.4

p.L3F

c.7C>T

exact variant not in gnomAD30 overlapping SVs

1 paper

chr12:52848883 T>TN

NM_173352.4

p.S16fs

c.46_47fs

exact variant not in gnomAD30 overlapping SVs

1 paper

chr12:52848870 G>C

NM_173352.4

p.R21G

c.61C>G

exact variant not in gnomAD30 overlapping SVs

1 paper

chr12:52848861 C>A

NM_173352.4

p.G24C

c.70G>T

Exome: 0.0% (AC=20, hom=0)Genome: n/a30 overlapping SVs

1 paper

chr12:52848856 G>A

NM_173352.4

p.R25R

c.75C>T

Exome: 0.1% (AC=1311, hom=1)Genome: 0.1% (AC=122, hom=1)30 overlapping SVs

1 paper

chr12:52848837 T>G

NM_173352.4

p.S32R

c.94A>C

exact variant not in gnomAD30 overlapping SVs

1 paper

chr12:52848835 G>C

NM_173352.4

p.S32R

c.96C>G

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."