Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_012341.3

p.M600K

c.1799T>A

Surrounding Variants

1 paper

NM_012341.3

p.N601I

c.1802A>T

1 paper

NM_012341.3

p.Q597Q

c.1791G>A

1 paper

NM_012341.3

p.L603_G604insG

c.1807_1811ins3

1 paper

NM_012341.3

p.A596V

c.1787C>T

1 paper

NM_012341.3

p.N595K

c.1785T>A

1 paper

NM_012341.3

p.N595K

c.1785T>G

2 papers

NM_012341.3

p.M592I

c.1776G>A

2 papers

NM_012341.3

p.M592I

c.1776G>C

2 papers

NM_012341.3

p.M592I

c.1776G>T

1 paper

NM_012341.3

p.M592delFs

c.1774_1775delAT

1 paper

NM_012341.3

p.L621insFs

c.1862dupT

1 paper

NM_012341.3

p.K584_M585Splc

c.1752+16G>A