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.L491P

c.1472T>C

Surrounding Variants

1 paper

NM_018094.5

p.I493L

c.1477A>C

1 paper

NM_018094.5

p.E471D

c.1413A>C

1 paper

NM_018094.5

p.L461L

c.1383C>T

1 paper

NM_018094.5

p.A541V

c.1622C>T

1 paper

NM_018094.5

p.K438M

c.1313A>T

1 paper

NM_018094.5

p.L433L

c.1299G>T

1 paper

NM_018094.5

p.R572*

c.1714C>T

1 paper

NM_018094.5

p.R585S

c.1753C>A

2 papers

NM_018094.5

p.S380C

c.1138A>T

1 paper

NM_018094.5

p.F606C

c.1817T>G

1 paper

NM_018094.5

p.K622*

c.1864A>T

1 paper

NM_018094.5

p.L344V

c.1030T>G