Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.M1165I

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
2 papers
NM_138420.4
p.M1165I
c.3495G>T
Surrounding Variants
2 papers
NM_138420.4
p.M1165I
c.3495G>C
2 papers
NM_138420.4
p.M1165I
c.3495G>A
1 paper
NM_138420.4
p.K1169N
c.3507G>T
1 paper
NM_138420.4
p.K1169N
c.3507G>C
1 paper
NM_138420.4
p.D1160Y
c.3478G>T
1 paper
NM_138420.4
p.P1171R
c.3512C>G
2 papers
NM_138420.4
p.P1171P
c.3513A>G
1 paper
NM_138420.4
p.S1172_F1173insFs
c.3516_3517insA
2 papers
NM_138420.4
p.A1175V
c.3524C>T
1 paper
NM_138420.4
p.S1176T
c.3526T>A
1 paper
NM_138420.4
p.A1177T
c.3529G>A
1 paper
NM_138420.4
p.A1177delFs
c.3530delG
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