Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.D1691D

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.D1691D
c.5073T>C
Surrounding Variants
3 papers
NM_138420.4
p.V1692M
c.5074G>A
1 paper
NM_138420.4
p.V1692G
c.5075T>G
1 paper
NM_138420.4
p.A1690A
c.5070T>C
1 paper
NM_138420.4
p.E1689E
c.5067A>G
1 paper
NM_138420.4
p.L1694F
c.5080C>T
1 paper
NM_138420.4
p.P1686P
c.5058G>C
1 paper
NM_138420.4
p.P1686L
c.5057C>T
1 paper
NM_138420.4
p.P1686S
c.5056C>T
1 paper
NM_138420.4
p.E1685E
c.5055G>A
1 paper
NM_138420.4
p.E1685A
c.5054A>C
1 paper
NM_138420.4
p.Q1698insFs
c.5093dupA
1 paper
NM_138420.4
p.S1680L
c.5039C>T
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