Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P744L

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.P744L
c.2231C>T
Surrounding Variants
1 paper
NM_138420.4
p.L743_P744delins
c.2229_2231delinsCCT
1 paper
NM_138420.4
p.G746A
c.2237G>C
1 paper
NM_138420.4
p.D740_G746delins
c.2220_2237delinsCGTGAAACTCCTGGAGGC
4 papers
NM_138420.4
p.P747T
c.2239C>A
1 paper
NM_138420.4
p.Q735_P747del0
c.2204_2239del36
1 paper
NM_138420.4
p.D740E
c.2220T>A
1 paper
NM_138420.4
p.A730T
c.2188G>A
4 papers
NM_138420.4
p.Q726H
c.2178G>T
4 papers
NM_138420.4
p.Q726H
c.2178G>C
1 paper
NM_138420.4
p.V725I
c.2173G>A
1 paper
NM_138420.4
p.T720A
c.2158A>G
1 paper
NM_138420.4
p.Q715H
c.2145G>T
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