Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1
Variant:p.C1026S

ANKHD1

122 papers

RefSeq Summary

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspas...

Gene Aliases

HGNC Name

ankyrin repeat and KH domain containing 1

HGNC Alias Symbols

MASK; FLJ20288; FLJ11979; FLJ10042; FLJ14127; KIAA1085; MASK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017747.3
p.C1026S
c.3077G>C
Surrounding Variants
1 paper
NM_017747.3
p.C1026S
c.3076T>A
1 paper
NM_017747.3
p.S1014C
c.3041C>G
1 paper
NM_017747.3
p.C1063S
c.3187T>A
1 paper
NM_017747.3
p.C1063S
c.3188G>C
1 paper
NM_017747.3
p.G1066S
c.3196G>A
1 paper
NM_017747.3
p.L1092P
c.3275T>C
1 paper
NM_017747.3
p.R1134H
c.3401G>A
1 paper
NM_017747.3
p.T1256T
c.3768G>A
1 paper
NM_017747.3
p.A1264A
c.3792A>G
2 papers
NM_017747.3
p.S1291L
c.3872C>T
1 paper
NM_017747.3
p.N1326T
c.3977A>C
1 paper
NM_017747.3
p.N1334N
c.4002T>C
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