Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S1748C

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.S1748C
c.5242A>T
Surrounding Variants
1 paper
NM_138420.4
p.E1733K
c.5197G>A
1 paper
NM_138420.4
p.P1732P
c.5196C>T
1 paper
NM_138420.4
p.P1732S
c.5194C>T
1 paper
NM_138420.4
p.G1772G
c.5316C>T
1 paper
NM_138420.4
p.V1722E
c.5165T>A
1 paper
NM_138420.4
p.P1773P
c.5319C>A
1 paper
NM_138420.4
p.Q1718*
c.5152C>T
1 paper
NM_138420.4
p.M1778T
c.5333T>C
1 paper
NM_138420.4
p.P1711P
c.5133T>C
4 papers
NM_138420.4
p.S1710P
c.5128T>C
2 papers
NM_138420.4
p.V1789M
c.5365G>A
1 paper
NM_138420.4
p.L1706I
c.5116C>A
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