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

1–12 of 49 variants

2 papers

NM_018094.5

p.S380C

c.1138A>T

1 paper

NM_018094.5

p.V18L

c.52G>C

1 paper

NM_018094.5

p.V18L

c.52G>T

1 paper

NM_018094.5

p.G31V

c.92G>T

1 paper

NM_018094.5

p.R50C

c.148C>T

1 paper

NM_018094.5

p.N62K

c.186C>A

1 paper

NM_018094.5

p.P70S

c.208C>T

1 paper

NM_018094.5

p.P70L

c.209C>T

1 paper

NM_018094.5

p.G75fs

c.223_224fs

1 paper

NM_018094.5

p.G75delFs

c.225delC

1 paper

NM_018094.5

p.P79S

c.235C>T

1 paper

NM_018094.5

p.P80fs

c.238_239fs