Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.P1120S

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.P1120S
c.3358C>T
Surrounding Variants
1 paper
NM_138420.4
p.A1119V
c.3356C>T
1 paper
NM_138420.4
p.D1121N
c.3361G>A
1 paper
NM_138420.4
p.T1118R
c.3353C>G
1 paper
NM_138420.4
p.V1124L
c.3370G>C
1 paper
NM_138420.4
p.S1112fs
c.3334_3335fs
1 paper
NM_138420.4
p.S1112_P1113insFs
c.3336_3337insA
1 paper
NM_138420.4
p.D1109A
c.3326A>C
1 paper
NM_138420.4
p.D1109N
c.3325G>A
3 papers
NM_138420.4
p.V1133I
c.3397G>A
4 papers
NM_138420.4
p.E1134Q
c.3400G>C
1 paper
NM_138420.4
p.E1134K
c.3400G>A
1 paper
NM_138420.4
p.P1136L
c.3407C>T
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