Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.A1288D

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.A1288D
c.3863C>A
Surrounding Variants
2 papers
NM_138420.4
p.E1286D
c.3858A>T
2 papers
NM_138420.4
p.E1286D
c.3858A>C
1 paper
NM_138420.4
p.H1285P
c.3854A>C
1 paper
NM_138420.4
p.T1283M
c.3848C>T
2 papers
NM_138420.4
p.H1278P
c.3833A>C
1 paper
NM_138420.4
p.G1277fs
c.3829_3830fs
1 paper
NM_138420.4
p.G1277S
c.3829G>A
1 paper
NM_138420.4
p.P1301R
c.3902C>G
1 paper
NM_138420.4
p.A1303T
c.3907G>A
1 paper
NM_138420.4
p.G1307S
c.3919G>A
1 paper
NM_138420.4
p.D1311E
c.3933C>G
1 paper
NM_138420.4
p.D1311E
c.3933C>A
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