Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.R335W

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
1 paper
NM_004693.3
p.R335W
c.1003C>T
Surrounding Variants
1 paper
NM_004693.3
p.R333H
c.998G>A
1 paper
NM_004693.3
p.A336A
c.1008C>T
6 papers
NM_004693.3
p.E337K
c.1009G>A
1 paper
NM_004693.3
p.Q343*
c.1027C>T
1 paper
NM_004693.3
p.A321T
c.961G>A
3 papers
NM_004693.3
p.I319N
c.956T>A
1 paper
NM_004693.3
p.S318N
c.953G>A
1 paper
NM_004693.3
p.D317N
c.949G>A
1 paper
NM_004693.3
p.R312H
c.935G>A
1 paper
NM_004693.3
p.R312C
c.934C>T
1 paper
NM_004693.3
p.D309E
c.927C>G
1 paper
NM_004693.3
p.D309E
c.927C>A
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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."