Varaico: Literature-Extracted Genetic Variants

Gene:AKTIP

AKTIP

46 papers

RefSeq Summary

The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as th...

Pfam Domains

UQ_conaa 78–217UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

AKT interacting protein

HGNC Previous Symbol

FTS

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
2 papers
NM_022476.4
p.R33Q
c.98G>A
2 papers
NM_022476.4
p.W167R
c.499T>C
2 papers
NM_022476.4
p.W167R
c.499T>A
1 paper
NM_022476.4
p.S10C
c.28A>T
1 paper
NM_022476.4
p.R13C
c.37C>T
1 paper
NM_022476.4
p.R13H
c.38G>A
1 paper
NM_022476.4
p.K14_R15Splc
c.42+18A>T
1 paper
NM_022476.4
p.L23F
c.69A>T
1 paper
NM_022476.4
p.L23F
c.69A>C
1 paper
NM_022476.4
p.V27M
c.79G>A
1 paper
NM_022476.4
p.R33*
c.97C>T
1 paper
NM_022476.4
p.P44L
c.131C>T
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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."