Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S1341F

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
4 papers
NM_138420.4
p.S1341F
c.4022C>T
Surrounding Variants
1 paper
NM_138420.4
p.V1340_S1341delins
c.4020_4022delinsTTT
1 paper
NM_138420.4
p.V1340_S1341delins
c.4020_4023delinsTTTG
1 paper
NM_001350929.2
p.A1242fs
c.3724_3725fs
1 paper
NM_138420.4
p.G1339R
c.4015G>C
1 paper
NM_138420.4
p.G1339R
c.4015G>A
1 paper
NM_138420.4
p.P1336L
c.4007C>T
1 paper
NM_138420.4
p.E1348G
c.4043A>G
1 paper
NM_138420.4
p.V1351M
c.4051G>A
1 paper
NM_138420.4
p.L1353V
c.4057C>G
4 papers
NM_138420.4
p.A1355P
c.4063G>C
1 paper
NM_138420.4
p.K1319E
c.3955A>G
1 paper
NM_138420.4
p.S1315_L1316insTG
c.3943_3947ins6
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