Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP2
Variant:p.V419A

GTPBP2

67 papers

RefSeq Summary

GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechani...

Pfam Domains

GTP_EFTUaa 172–410UCSCElongation factor Tu GTP binding domain

Gene Aliases

HGNC Name

GTP binding protein 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019096.5
p.V419A
c.1256T>C
Surrounding Variants
1 paper
NM_019096.5
p.V413fs
c.1237_1238fs
5 papers
NM_019096.5
p.Q412_V413Splc
c.1237-1G>T
1 paper
NM_019096.5
p.L430P
c.1289T>C
4 papers
NM_019096.5
p.Q412_V413Splc
c.1236+1G>A
2 papers
NM_019096.5
p.Q407*
c.1219C>T
1 paper
NM_019096.5
p.M405insFs
c.1214_1215insT
1 paper
NM_019096.5
p.D354N
c.1060G>A
1 paper
NM_019096.5
p.E352fs
c.1054_1055fs
1 paper
NM_019096.5
p.R335Q
c.1004G>A
1 paper
NM_019096.5
p.Q332fs
c.994_995fs
1 paper
NM_019096.5
p.Q332*
c.994C>T
1 paper
NM_019096.5
p.R331C
c.991C>T
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