Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1
Variant:p.R136fs

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
1 paper
NM_017747.3
p.R136fs
c.406_407fs
Surrounding Variants
1 paper
NM_017747.3
p.P140P
c.420A>G
1 paper
NM_017747.3
p.E141G
c.422A>G
2 papers
NM_017747.3
p.Q143E
c.427C>G
1 paper
NM_017747.3
p.R145*
c.433C>T
1 paper
NM_017747.3
p.S127P
c.379T>C
1 paper
NM_017747.3
p.I155F
c.463A>T
1 paper
NM_017747.3
p.K164E
c.490A>G
1 paper
NM_017747.3
p.L175M
c.523C>A
1 paper
NM_017747.3
p.L175_T176insGCG
c.523_527ins9
1 paper
NM_017747.3
p.S178S
c.534A>T
1 paper
NM_017747.3
p.N197T
c.590A>C
1 paper
NM_017747.3
p.D226N
c.676G>A
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