Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.K781T

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
8 papers
NM_138420.4
p.K781T
c.2342A>C
Surrounding Variants
1 paper
NM_138420.4
p.V787G
c.2360T>G
1 paper
NM_138420.4
p.L810M
c.2428C>A
1 paper
NM_138420.4
p.R814P
c.2441G>C
1 paper
NM_138420.4
p.Q735_P747del0
c.2204_2239del36
4 papers
NM_138420.4
p.P747T
c.2239C>A
1 paper
NM_138420.4
p.G746A
c.2237G>C
1 paper
NM_138420.4
p.D740_G746delins
c.2220_2237delinsCGTGAAACTCCTGGAGGC
2 papers
NM_138420.4
p.P744L
c.2231C>T
1 paper
NM_138420.4
p.L743_P744delins
c.2229_2231delinsCCT
1 paper
NM_138420.4
p.S820P
c.2458T>C
1 paper
NM_138420.4
p.D740E
c.2220T>A
1 paper
NM_138420.4
p.D823N
c.2467G>A
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