Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.C388C

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004693.3
p.C388C
c.1164T>C
Surrounding Variants
1 paper
NM_004693.3
p.D397H
c.1189G>C
1 paper
NM_004693.3
p.R410Q
c.1229G>A
2 papers
NM_004693.3
p.M427T
c.1280T>C
2 papers
NM_004693.3
p.R429P
c.1286G>C
1 paper
NM_004693.3
p.R429Q
c.1286G>A
1 paper
NM_004693.3
p.R432C
c.1294C>T
1 paper
NM_004693.3
p.E433Q
c.1297G>C
1 paper
NM_004693.3
p.M438T
c.1313T>C
1 paper
NM_004693.3
p.I440T
c.1319T>C
1 paper
NM_004693.3
p.R378T
c.1133G>C
1 paper
NM_004693.3
p.S368C
c.1103C>G
2 papers
NM_004693.3
p.E458K
c.1372G>A
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