Varaico: Literature-Extracted Genetic Variants

Gene:AGFG1

AGFG1

261 papers

RefSeq Summary

The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency...

Pfam Domains

ArfGapaa 14–130UCSCPutative GTPase activating protein for Arf

Gene Aliases

HGNC Name

ArfGAP with FG repeats 1

HGNC Previous Symbol

HRB

Papers
RefSeq ID
Protein change
DNA change
1–12 of 134 variants
4 papers
NM_004504.5
p.V139A
c.416T>C
2 papers
NM_004504.5
p.R186H
c.557G>A
2 papers
NM_004504.5
p.S443P
c.1327T>C
1 paper
NM_004504.5
p.M1T
c.2T>C
1 paper
NM_004504.5
p.M1I
c.3G>A
1 paper
NM_004504.5
p.A2A
c.6G>A
1 paper
NM_004504.5
p.A2A
c.6G>C
1 paper
NM_004504.5
p.A3T
c.7G>A
1 paper
NM_004504.5
p.A3S
c.7G>T
1 paper
NM_004504.5
p.K8R
c.23A>G
1 paper
NM_004504.5
p.E10G
c.29A>G
1 paper
NM_004504.5
p.E10E
c.30G>A
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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."