Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.K1015R

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.K1015R
c.3044A>G
Surrounding Variants
1 paper
NM_138420.4
p.K997R
c.2990A>G
1 paper
NM_138420.4
p.A993T
c.2977G>A
1 paper
NM_138420.4
p.D990E
c.2970C>G
1 paper
NM_138420.4
p.D990E
c.2970C>A
1 paper
NM_138420.4
p.D988N
c.2962G>A
1 paper
NM_138420.4
p.V966A
c.2897T>C
1 paper
NM_138420.4
p.P1067L
c.3200C>T
2 papers
NM_138420.4
p.L1071V
c.3211C>G
1 paper
NM_138420.4
p.P1072S
c.3214C>T
1 paper
NM_138420.4
p.E1073Q
c.3217G>C
2 papers
NM_138420.4
p.E1073K
c.3217G>A
1 paper
NM_138420.4
p.G957V
c.2870G>T
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