Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.I281delFs

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.I281delFs
c.843delG
Surrounding Variants
2 papers
NM_004693.3
p.P278P
c.834C>T
1 paper
NM_004693.3
p.S276F
c.827C>T
1 paper
NM_004693.3
p.E269A
c.806A>C
1 paper
NM_004693.3
p.R246C
c.736C>T
1 paper
NM_004693.3
p.K245K
c.735G>A
2 papers
NM_004693.3
p.E242G
c.725A>G
1 paper
NM_004693.3
p.E240K
c.718G>A
1 paper
NM_004693.3
p.S303T
c.907T>A
1 paper
NM_004693.3
p.D309E
c.927C>G
1 paper
NM_004693.3
p.D309E
c.927C>A
1 paper
NM_004693.3
p.R312C
c.934C>T
1 paper
NM_004693.3
p.R312H
c.935G>A
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