Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S2826L

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.S2826L
c.8477C>T
Surrounding Variants
1 paper
NM_138420.4
p.G2824R
c.8470G>C
1 paper
NM_138420.4
p.G2824R
c.8470G>A
1 paper
NM_138420.4
p.S2822L
c.8465C>T
1 paper
NM_138420.4
p.S2835L
c.8504C>T
1 paper
NM_138420.4
p.K2812M
c.8435A>T
2 papers
NM_138420.4
p.K2812R
c.8435A>G
1 paper
NM_138420.4
p.L2841P
c.8522T>C
1 paper
NM_138420.4
p.K2809Q
c.8425A>C
1 paper
NM_138420.4
p.M2806delFs
c.8416delT
2 papers
NM_138420.4
p.M2806V
c.8416A>G
1 paper
NM_138420.4
p.G2805delFs
c.8415delG
1 paper
NM_138420.4
p.G2805G
c.8415C>T
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