Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.Q1639R

AHNAK2

380 papers

RefSeq Summary

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-ter...

Gene Aliases

HGNC Name

AHNAK nucleoprotein 2

HGNC Previous Symbol

C14orf78

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138420.4
p.Q1639R
c.4916A>G
Surrounding Variants
1 paper
NM_138420.4
p.L1635_D1636insAA
c.4903_4907ins6
2 papers
NM_138420.4
p.A1650E
c.4949C>A
1 paper
NM_138420.4
p.A1650A
c.4950G>T
1 paper
NM_138420.4
p.M1624V
c.4870A>G
1 paper
NM_138420.4
p.K1618E
c.4852A>G
1 paper
NM_138420.4
p.V1617L
c.4849G>C
1 paper
NM_138420.4
p.D1616N
c.4846G>A
1 paper
NM_138420.4
p.V1610delins
c.4829_4830delinsCA
3 papers
NM_138420.4
p.V1610A
c.4829T>C
1 paper
NM_138420.4
p.V1670A
c.5009T>C
1 paper
NM_138420.4
p.G1607D
c.4820G>A
2 papers
NM_138420.4
p.K1675E
c.5023A>G
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