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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT7

KRT7

245 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 49–87UCSCKeratin type II head

Filamentaa 90–402UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 7

HGNC Alias Symbols

K7; CK7; CK-7; K2C7; SCL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 136 variants

7 papers

chr12:52237529 A>G

NM_005556.4

p.H186R

c.557A>G

Filament

Exome: 81.2% (AC=1183868, hom=481802)Genome: 84.5% (AC=128407, hom=54428)27 overlapping SVs

6 papers

chr12:52233398 T>C

NM_005556.4

p.L34L

c.102T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 overlapping SVs

6 papers

chr12:52237525 A>C

NM_005556.4

p.N185H

c.553A>C

Filament

Exome: 0.5% (AC=6659, hom=0)Genome: 0.0% (AC=3, hom=0)27 overlapping SVs

4 papers

chr12:52235329 C>T

NM_005556.4

p.R167W

c.499C>T

Filament

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=3, hom=0)28 overlapping SVs

3 papers

chr12:52233358 G>C

NM_005556.4

p.G21A

c.62G>C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

3 papers

chr12:52233429 T>C

NM_005556.4

p.S45P

c.133T>C

exact variant not in gnomAD29 overlapping SVs

3 papers

chr12:52233430 C>T

NM_005556.4

p.S45L

c.134C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a29 overlapping SVs

3 papers

chr12:52233480 G>T

NM_005556.4

p.G62C

c.184G>T

Keratin_2_head

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

2 papers

chr12:52233483 A>G

NM_005556.4

p.I63V

c.187A>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

2 papers

chr12:52233580 T>A

NM_005556.4

p.I95N

c.284T>A

Filament

exact variant not in gnomAD28 overlapping SVs

2 papers

chr12:52235276 G>A

NM_005556.4

p.R149Q

c.446G>A

Filament

Exome: 0.3% (AC=4889, hom=15)Genome: 0.2% (AC=346, hom=0)28 overlapping SVs

2 papers

chr12:52235330 G>A

NM_005556.4

p.R167Q

c.500G>A

Filament

Exome: 0.0% (AC=76, hom=0)Genome: 0.0% (AC=7, hom=0)28 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."