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.R488*

c.1462C>T

Surrounding Variants

1 paper

NM_012341.3

p.S498S

c.1494C>T

1 paper

NM_012341.3

p.E475K

c.1423G>A

1 paper

NM_012341.3

p.T503K

c.1508C>A

1 paper

NM_012341.3

p.S470C

c.1409C>G

1 paper

NM_012341.3

p.P506L

c.1517C>T

1 paper

NM_012341.3

p.P509_R510del2

c.1525_1529del6

1 paper

NM_012341.3

p.P509S

c.1525C>T

1 paper

NM_012341.3

p.D467Y

c.1399G>T

1 paper

NM_012341.3

p.R510G

c.1528C>G

1 paper

NM_012341.3

p.R510Q

c.1529G>A

1 paper

NM_012341.3

p.T511A

c.1531A>G

1 paper

NM_012341.3

p.K514delFs

c.1541_1542delAG