Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP4
Variant:p.R525H

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
3 papers
NM_012341.3
p.R525H
c.1574G>A
Surrounding Variants
1 paper
NM_012341.3
p.L527R
c.1580T>G
1 paper
NM_012341.3
p.K522N
c.1566G>C
1 paper
NM_012341.3
p.K522N
c.1566G>T
1 paper
NM_012341.3
p.R517W
c.1549A>T
1 paper
NM_012341.3
p.A540T
c.1618G>A
1 paper
NM_012341.3
p.S548N
c.1643G>A
1 paper
NM_012341.3
p.P560T
c.1678C>A
1 paper
NM_012341.3
p.P560L
c.1679C>T
1 paper
NM_012341.3
p.P561A
c.1681C>G
1 paper
NM_012341.3
p.R566Q
c.1697G>A
1 paper
NM_012341.3
p.G568W
c.1702G>T
1 paper
NM_012341.3
p.G568E
c.1703G>A
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