Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.Q173H

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.Q173H
c.519G>C
Surrounding Variants
1 paper
NM_004693.3
p.Q173H
c.519G>T
1 paper
NM_004693.3
p.E171A
c.512A>C
1 paper
NM_004693.3
p.E171K
c.511G>A
1 paper
NM_004693.3
p.K166_V167Splc
c.499-4C>T
1 paper
NM_004693.3
p.A182_L183del1
c.545_547delGGG
1 paper
NM_004693.3
p.L196L
c.586C>T
1 paper
NM_004693.3
p.P198L
c.593C>T
1 paper
NM_004693.3
p.D201H
c.601G>C
1 paper
NM_004693.3
p.L207L
c.621C>A
1 paper
NM_004693.3
p.R209Q
c.626G>A
1 paper
NM_004693.3
p.I214V
c.640A>G
1 paper
NM_004693.3
p.A223T
c.667G>A
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