Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP4
Variant:p.N358_R359insFs

GTPBP4

326 papers

RefSeq Summary

GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means...

Pfam Domains

NOG1_Naa 6–165UCSCNOG1 N-terminal helical domain
NOG1aa 235–292UCSCNucleolar GTP-binding protein 1 (NOG1)
NOGCTaa 395–446UCSCNOGCT (NUC087) domain

Gene Aliases

HGNC Name

GTP binding protein 4

HGNC Alias Symbols

CRFG; FLJ10690; FLJ10686; NOG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012341.3
p.N358_R359insFs
c.1074_1075insC
Surrounding Variants
1 paper
NM_012341.3
p.L357insFs
c.1069_1070insAC
1 paper
NM_012341.3
p.V353V
c.1059G>T
2 papers
NM_012341.3
p.I364V
c.1090A>G
1 paper
NM_012341.3
p.K349T
c.1046A>C
1 paper
NM_012341.3
p.K349Q
c.1045A>C
1 paper
NM_012341.3
p.K347N
c.1041A>C
1 paper
NM_012341.3
p.K347N
c.1041A>T
1 paper
NM_012341.3
p.D370A
c.1109A>C
1 paper
NM_012341.3
p.K347delFs
c.1039delA
1 paper
NM_012341.3
p.D337N
c.1009G>A
1 paper
NM_012341.3
p.D337H
c.1009G>C
1 paper
NM_012341.3
p.A335V
c.1004C>T
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