Varaico: Literature-Extracted Genetic Variants

Gene:EFL1

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
1–12 of 95 variants
6 papers
NM_024580.6
p.M882K
c.2645T>A
6 papers
NM_024580.6
p.R1095Q
c.3284G>A
4 papers
NM_024580.6
p.T127A
c.379A>G
4 papers
NM_024580.6
p.I617V
c.1849A>G
3 papers
NM_024580.6
p.T33A
c.97A>G
3 papers
NM_024580.6
p.V1010I
c.3028G>A
3 papers
NM_024580.6
p.T1069A
c.3205A>G
2 papers
NM_024580.6
p.H30R
c.89A>G
2 papers
NM_024580.6
p.A286T
c.856G>A
2 papers
NM_024580.6
p.F505S
c.1514T>C
2 papers
NM_024580.6
p.R754*
c.2260C>T
2 papers
NM_024580.6
p.F826insFs
c.2478dupT
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