Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.Q2240E

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.Q2240E
c.6718C>G
Surrounding Variants
1 paper
NM_138420.4
p.V2230A
c.6689T>C
1 paper
NM_138420.4
p.G2253C
c.6757G>T
2 papers
NM_138420.4
p.G2253R
c.6757G>C
1 paper
NM_138420.4
p.V2226A
c.6677T>C
1 paper
NM_138420.4
p.E2255Q
c.6763G>C
1 paper
NM_138420.4
p.I2256V
c.6766A>G
1 paper
NM_138420.4
p.I2256M
c.6768A>G
1 paper
NM_138420.4
p.D2257V
c.6770A>T
1 paper
NM_138420.4
p.L2222P
c.6665T>C
2 papers
NM_138420.4
p.K2220K
c.6660A>G
1 paper
NM_138420.4
p.V2219V
c.6657G>T
1 paper
NM_138420.4
p.L2265L
c.6793C>T
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