Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1
Variant:p.S240R

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.S240R
c.720C>G
Surrounding Variants
2 papers
NM_017747.3
p.S240R
c.720C>A
2 papers
NM_017747.3
p.S240R
c.718A>C
1 paper
NM_017747.3
p.T235A
c.703A>G
1 paper
NM_017747.3
p.T235S
c.703A>T
1 paper
NM_017747.3
p.E233E
c.699A>G
1 paper
NM_017747.3
p.G249E
c.746G>A
1 paper
NM_017747.3
p.G249V
c.746G>T
1 paper
NM_017747.3
p.G228C
c.682G>T
1 paper
NM_017747.3
p.D226N
c.676G>A
1 paper
NM_017747.3
p.G271R
c.811G>A
1 paper
NM_017747.3
p.G271R
c.811G>C
1 paper
NM_017747.3
p.G271E
c.812G>A
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