Varaico: Literature-Extracted Genetic Variants

Gene:GIMAP5
Variant:p.L223P

GIMAP5

39 papers

RefSeq Summary

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are loca...

Pfam Domains

AIG1aa 28–239UCSCAIG1 family

Gene Aliases

HGNC Name

GTPase, IMAP family member 5

HGNC Previous Symbol

IAN4L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018384.5
p.L223P
c.668T>C
Surrounding Variants
4 papers
NM_018384.5
p.L223F
c.667C>T
1 paper
NM_018384.5
p.N221S
c.662A>G
1 paper
NM_018384.5
p.S220C
c.658A>T
1 paper
NM_018384.5
p.H219Y
c.655C>T
1 paper
NM_018384.5
p.R214*
c.640C>T
10 papers
NM_018384.5
p.L204P
c.611T>C
1 paper
NM_018384.5
p.R243M
c.728G>T
1 paper
NM_018384.5
p.E195*
c.583G>T
1 paper
NM_018384.5
p.V253G
c.758T>G
1 paper
NM_018384.5
p.Q258L
c.773A>T
1 paper
NM_018384.5
p.R261M
c.782G>T
1 paper
NM_018384.5
p.W267G
c.799T>G
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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."