Varaico: Literature-Extracted Genetic Variants

GSPT2

47 papers

RefSeq Summary

This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 t...

Pfam Domains

PAM2aa 47–64UCSCAtaxin-2 C-terminal region

GTP_EFTUaa 201–441UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 443–510UCSCElongation factor Tu domain 2

GTP-eEF1A_Caa 521–621UCSCGTP-eEF1A C-terminal domain-like

Gene Aliases

HGNC Name

G1 to S phase transition 2

HGNC Alias Symbols

eRF3b; FLJ10441

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018094.5

p.W254R

c.760T>C

Surrounding Variants

1 paper

NM_018094.5

p.D264D

c.792C>T

1 paper

NM_018094.5

p.R273H

c.818G>A

1 paper

NM_018094.5

p.Q222R

c.665A>G

1 paper

NM_018094.5

p.G221*

c.661G>T

1 paper

NM_018094.5

p.H291R

c.872A>G

1 paper

NM_018094.5

p.N297D

c.889A>G

1 paper

NM_018094.5

p.F208F

c.624C>T

1 paper

NM_018094.5

p.H203Q

c.609C>A

1 paper

NM_018094.5

p.H203Q

c.609C>G

1 paper

NM_018094.5

p.P195L

c.584C>T

1 paper

NM_018094.5

p.K325N

c.975A>C

1 paper

NM_018094.5

p.K325N

c.975A>T