Varaico: Literature-Extracted Genetic Variants

Gene:EFL1
Variant:p.K53_L54Splc

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.K53_L54Splc
c.159+3A>G
Surrounding Variants
1 paper
NM_024580.6
p.K53E
c.157A>G
1 paper
NM_024580.6
p.K53Q
c.157A>C
1 paper
NM_024580.6
p.S47C
c.140C>G
1 paper
NM_024580.6
p.C38S
c.113G>C
1 paper
NM_024580.6
p.C38S
c.112T>A
3 papers
NM_024580.6
p.T33A
c.97A>G
2 papers
NM_024580.6
p.H30R
c.89A>G
1 paper
NM_024580.6
p.K14I
c.41A>T
1 paper
NM_024580.6
p.K14R
c.41A>G
1 paper
NM_024580.6
p.L3P
c.8T>C
1 paper
NM_024580.6
p.M57T
c.170T>C
1 paper
NM_024580.6
p.D62A
c.185A>C
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