Varaico: Literature-Extracted Genetic Variants

GSPT1

16p13.13 (UCSC)OMIM GTEx

86 papers

Pfam Domains

GTP_EFTUaa 72–313UCSCElongation factor Tu GTP binding domain

GTP_EFTUaa 72–313UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 314–381UCSCElongation factor Tu domain 2

GTP_EFTU_D2aa 314–381UCSCElongation factor Tu domain 2

GTP-eEF1A_Caa 392–492UCSCGTP-eEF1A C-terminal domain-like

GTP-eEF1A_Caa 392–492UCSCGTP-eEF1A C-terminal domain-like

Gene Aliases

HGNC Name

G1 to S phase transition 1

HGNC Alias Symbols

GST1; ETF3A; eRF3a

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

NM_002094.4

p.V100A

c.299T>C

NM_002094.4

p.G575A

c.1724G>C

NM_002094.4

p.G16delins

c.48delinsCGGG

NM_002094.4

p.G92C

c.274G>T

NM_002094.4

p.N105D

c.313A>G

NM_002094.4

p.G6G

c.18C>T

NM_002094.4

p.G13D

c.38G>A

NM_002094.4

p.G16ins1

c.47_48insCGG

NM_002094.4

p.G16ins2

c.47_48ins6

NM_002094.4

p.G13_G16ins1

c.39_47dup9

NM_002094.4

p.G15_G16del1

c.45_47delCCG

NM_002094.4

p.G16del1

c.46_47delCCC