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.G575A

c.1724G>C

Surrounding Variants

NM_002094.4

p.S574del1

c.1720_1721delTGA

NM_002094.4

p.E576A

c.1727A>C

NM_002094.4

p.S574A

c.1720T>G

NM_002094.4

p.R583H

c.1748G>A

NM_002094.4

p.F606S

c.1817T>C

NM_002094.4

p.H555Y

c.1663C>T

NM_002094.4

p.E539G

c.1616A>G

NM_002094.4

p.P521R

c.1562C>G

NM_002094.4

p.G497_L500delFs

c.1491_1498del8

NM_002094.4

p.V479M

c.1435G>A

NM_002094.4

p.K636fs

c.1906_1907fs

NM_002094.4

p.D637E

c.1911C>G