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

1–12 of 227 variants

4 papers

NM_012341.3

p.V12E

c.35T>A

3 papers

NM_012341.3

p.R248C

c.742C>T

3 papers

NM_012341.3

p.R525H

c.1574G>A

2 papers

NM_012341.3

p.V12M

c.34G>A

2 papers

NM_012341.3

p.T54A

c.160A>G

2 papers

NM_012341.3

p.D90N

c.268G>A

2 papers

NM_012341.3

p.F206delFs

c.616delT

2 papers

NM_012341.3

p.K332*

c.994A>T

2 papers

NM_012341.3

p.I364V

c.1090A>G

2 papers

NM_012341.3

p.R488*

c.1462C>T

2 papers

NM_012341.3

p.M592I

c.1776G>A

2 papers

NM_012341.3

p.M592I

c.1776G>C