Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V4054L

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.V4054L
c.12160G>T
Surrounding Variants
1 paper
NM_138420.4
p.V4054L
c.12160G>C
1 paper
NM_138420.4
p.Q4055*
c.12163C>T
1 paper
NM_138420.4
p.I4071fs
c.12211_12212fs
1 paper
NM_138420.4
p.I4071_D4072delFs
c.12213_12216del4
1 paper
NM_138420.4
p.P4076S
c.12226C>T
2 papers
NM_138420.4
p.K4081T
c.12242A>C
1 paper
NM_138420.4
p.S4022S
c.12066C>T
1 paper
NM_138420.4
p.T4088R
c.12263C>G
1 paper
NM_138420.4
p.V4018V
c.12054T>A
1 paper
NM_138420.4
p.L4016L
c.12048C>G
1 paper
NM_138420.4
p.P4106P
c.12318G>A
1 paper
NM_138420.4
p.D4111Y
c.12331G>T
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