Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP4
Variant:p.K16_D17Splc

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.K16_D17Splc
c.48+1G>A
Surrounding Variants
1 paper
NM_012341.3
p.K16_D17Splc
c.48+3A>G
1 paper
NM_012341.3
p.K16E
c.46A>G
4 papers
NM_012341.3
p.V12E
c.35T>A
1 paper
NM_012341.3
p.V12A
c.35T>C
2 papers
NM_012341.3
p.V12M
c.34G>A
1 paper
NM_012341.3
p.V11Fs
c.32_33delinsGTGFs
1 paper
NM_012341.3
p.T10A
c.28A>G
1 paper
NM_012341.3
p.T10delFs
c.29delC
1 paper
NM_012341.3
p.K7E
c.19A>G
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.F6L
c.16T>C
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