Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V2272M

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
3 papers
NM_138420.4
p.V2272M
c.6814G>A
Surrounding Variants
3 papers
NM_138420.4
p.T2273R
c.6818C>G
3 papers
NM_138420.4
p.A2274V
c.6821C>T
1 paper
NM_138420.4
p.V2279M
c.6835G>A
1 paper
NM_138420.4
p.L2265L
c.6793C>T
1 paper
NM_138420.4
p.V2284M
c.6850G>A
1 paper
NM_138420.4
p.D2257V
c.6770A>T
1 paper
NM_138420.4
p.I2256M
c.6768A>G
1 paper
NM_138420.4
p.I2256V
c.6766A>G
1 paper
NM_138420.4
p.E2255Q
c.6763G>C
1 paper
NM_138420.4
p.K2289E
c.6865A>G
1 paper
NM_138420.4
p.G2253C
c.6757G>T
2 papers
NM_138420.4
p.G2253R
c.6757G>C
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