Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.D1260A

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.D1260A
c.3779A>C
Surrounding Variants
1 paper
NM_138420.4
p.P1252P
c.3756T>C
1 paper
NM_138420.4
p.M1251R
c.3752T>G
1 paper
NM_138420.4
p.G1277S
c.3829G>A
1 paper
NM_138420.4
p.G1277fs
c.3829_3830fs
3 papers
NM_138420.4
p.F1242L
c.3726C>G
3 papers
NM_138420.4
p.F1242L
c.3726C>A
2 papers
NM_138420.4
p.H1278P
c.3833A>C
3 papers
NM_138420.4
p.F1242L
c.3724T>C
2 papers
NM_138420.4
p.G1241S
c.3721G>A
1 paper
NM_138420.4
p.T1283M
c.3848C>T
1 paper
NM_138420.4
p.V1236V
c.3708G>T
1 paper
NM_138420.4
p.H1285P
c.3854A>C
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