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

Selected Variant

NM_002094.4

p.N105S

c.314A>G

Surrounding Variants

NM_002094.4

p.N105D

c.313A>G

NM_002094.4

p.G101C

c.301G>T

NM_002094.4

p.V100A

c.299T>C

NM_002094.4

p.P96S

c.286C>T

NM_002094.4

p.G92C

c.274G>T

NM_002094.4

p.E55K

c.163G>A

NM_002094.4

p.A51T

c.151G>A

NM_002094.4

p.L50R

c.149T>G

NM_002094.4

p.G47_G48insCGG

c.139_143ins9

NM_002094.4

p.G47_G48ins6

c.139_143ins18

NM_002094.4

p.P39A

c.115C>G

NM_002094.4

p.M36V

c.106A>G