Varaico: Literature-Extracted Genetic Variants

Gene:KRT7
Variant:p.D182D

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005556.4
p.D182D
c.546T>C
Surrounding Variants
1 paper
NM_005556.4
p.D182G
c.545A>G
6 papers
NM_005556.4
p.N185H
c.553A>C
1 paper
NM_005556.4
p.H186insFs
c.556_557insG
1 paper
NM_005556.4
p.H186fs
c.556_557fs
7 papers
NM_005556.4
p.H186R
c.557A>G
1 paper
NM_005556.4
p.R187H
c.560G>A
1 paper
NM_005556.4
p.T188A
c.562A>G
1 paper
NM_005556.4
p.A189insFs
c.566_567insA
1 paper
NM_005556.4
p.K179Splc
c.537-51C>T
1 paper
NM_005556.4
p.A203_A217del0
c.609_650del42
1 paper
NM_005556.4
p.M206R
c.617T>G
1 paper
NM_005556.4
p.E212Q
c.634G>C
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