Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.Q626H

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.Q626H
c.1878G>C
Surrounding Variants
1 paper
NM_138420.4
p.Q626H
c.1878G>T
1 paper
NM_138420.4
p.E625K
c.1873G>A
1 paper
NM_138420.4
p.A617P
c.1849G>C
1 paper
NM_138420.4
p.E637Q
c.1909G>C
1 paper
NM_138420.4
p.K636delFs
c.1907_1908delTT
1 paper
NM_138420.4
p.K636_E637delFs
c.1908_1911del4
1 paper
NM_138420.4
p.K604delFs
c.1812delT
1 paper
NM_138420.4
p.G601insFs
c.1802dupG
1 paper
NM_138420.4
p.K659fs
c.1975_1976fs
1 paper
NM_138420.4
p.W592*
c.1776G>A
1 paper
NM_138420.4
p.W592*
c.1775G>A
1 paper
NM_138420.4
p.A669T
c.2005G>A
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