Varaico: Literature-Extracted Genetic Variants

Gene:EFL1
Variant:p.T750M

EFL1

80 papers

Pfam Domains

GTP_EFTUaa 17–311UCSCElongation factor Tu GTP binding domain
EFG_IIIaa 614–687UCSCElongation Factor G, domain III
EFL1aa 754–839UCSCElongation factor-like GTPase 1-like domain
EFG_Caa 979–1066UCSCElongation factor G C-terminus

Gene Aliases

HGNC Name

elongation factor like GTPase 1

HGNC Previous Symbol

EFTUD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024580.6
p.T750M
c.2249C>T
Surrounding Variants
2 papers
NM_024580.6
p.R754*
c.2260C>T
1 paper
NM_024580.6
p.I773fs
c.2317_2318fs
1 paper
NM_024580.6
p.L772delFs
c.2316delC
1 paper
NM_024580.6
p.E787K
c.2359G>A
1 paper
NM_024580.6
p.P699L
c.2096C>T
1 paper
NM_024580.6
p.H810Q
c.2430C>G
1 paper
NM_024580.6
p.H810Q
c.2430C>A
1 paper
NM_024580.6
p.L811fs
c.2431_2432fs
1 paper
NM_024580.6
p.H810_L811delFs
c.2430_2431delGG
1 paper
NM_024580.6
p.P688S
c.2062C>T
2 papers
NM_024580.6
p.F826insFs
c.2478dupT
1 paper
NM_024580.6
p.G827fs
c.2479_2480fs
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