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

1 paper

NM_012341.3

p.R233K

c.698G>A

Surrounding Variants

1 paper

NM_012341.3

p.D232insFs

c.695_696insT

1 paper

NM_012341.3

p.E237K

c.709G>A

1 paper

NM_012341.3

p.Q239insFs

c.715dupC

1 paper

NM_012341.3

p.Q239*

c.715C>T

1 paper

NM_012341.3

p.D227insFs

c.680dupA

1 paper

NM_012341.3

p.I241F

c.721A>T

1 paper

NM_012341.3

p.G224A

c.671G>C

1 paper

NM_012341.3

p.A243delFs

c.727delG

1 paper

NM_012341.3

p.V220A

c.659T>C

3 papers

NM_012341.3

p.R248C

c.742C>T

1 paper

NM_012341.3

p.R248H

c.743G>A

1 paper

NM_012341.3

p.A249T

c.745G>A