Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1
Variant:p.Q2016E

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.Q2016E
c.6046C>G
Surrounding Variants
1 paper
NM_017747.3
p.Q2010E
c.6028C>G
1 paper
NM_017747.3
p.L2004fs
c.6010_6011fs
1 paper
NM_017747.3
p.P1972L
c.5915C>T
1 paper
NM_017747.3
p.E2063D
c.6189A>C
1 paper
NM_017747.3
p.E2063D
c.6189A>T
1 paper
NM_017747.3
p.T2073S
c.6217A>T
1 paper
NM_017747.3
p.T2073S
c.6218C>G
1 paper
NM_017747.3
p.S1944R
c.5832T>A
1 paper
NM_017747.3
p.S1944R
c.5832T>G
1 paper
NM_017747.3
p.S1944R
c.5830A>C
1 paper
NM_017747.3
p.S1944C
c.5830A>T
1 paper
NM_017747.3
p.A1943A
c.5829C>A
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