Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.F1242L

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
3 papers
NM_138420.4
p.F1242L
c.3724T>C
Surrounding Variants
3 papers
NM_138420.4
p.F1242L
c.3726C>G
3 papers
NM_138420.4
p.F1242L
c.3726C>A
2 papers
NM_138420.4
p.G1241S
c.3721G>A
1 paper
NM_138420.4
p.V1236V
c.3708G>T
1 paper
NM_138420.4
p.M1251R
c.3752T>G
1 paper
NM_138420.4
p.P1252P
c.3756T>C
1 paper
NM_138420.4
p.L1231F
c.3691C>T
1 paper
NM_138420.4
p.K1230K
c.3690G>A
1 paper
NM_138420.4
p.K1230T
c.3689A>C
1 paper
NM_138420.4
p.Q1226K
c.3676C>A
1 paper
NM_138420.4
p.H1223Q
c.3669C>G
1 paper
NM_138420.4
p.H1223Q
c.3669C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."