Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP4
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_012341.3
p.M1T
c.2T>C
1 paper
NM_012341.3
p.M1insFs
c.3dupG
1 paper
NM_012341.3
p.M1insFs
c.2dupT
1 paper
NM_012341.3
p.M1delFs
c.2delT
1 paper
NM_012341.3
p.N5insFs
c.14dupA
1 paper
NM_012341.3
p.F6delFs
c.16delT
1 paper
NM_012341.3
p.F6L
c.16T>C
1 paper
NM_012341.3
p.F6L
c.18C>A
1 paper
NM_012341.3
p.F6L
c.18C>G
1 paper
NM_012341.3
p.K7E
c.19A>G
1 paper
NM_012341.3
p.T10A
c.28A>G
1 paper
NM_012341.3
p.T10delFs
c.29delC
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