Varaico: Literature-Extracted Genetic Variants

Gene:EEFSEC
Variant:p.Q501H

EEFSEC

64 papers

Pfam Domains

GTP_EFTUaa 5–215UCSCElongation factor Tu GTP binding domain
GTP_EFTU_D2aa 238–305UCSCElongation factor Tu domain 2
euk_SelB_IIIaa 316–448UCSCSelenocysteine-specific elongation factor, eukaryotes, 3rd domain
eEFSec_4thaa 465–590UCSCeEFSec C-terminal RIFT domain

Gene Aliases

HGNC Name

eukaryotic elongation factor, selenocysteine-tRNA specific

HGNC Alias Symbols

SELB; EFSEC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021937.5
p.Q501H
c.1503G>C
Surrounding Variants
1 paper
NM_021937.5
p.Q501H
c.1503G>T
1 paper
NM_021937.5
p.T498_N499insFs
c.1494_1495insA
1 paper
NM_021937.5
p.S492F
c.1475C>T
1 paper
NM_021937.5
p.V488M
c.1462G>A
1 paper
NM_021937.5
p.V488fs
c.1462_1463fs
1 paper
NM_021937.5
p.V488fs
c.1462_1463fs
2 papers
NM_021937.5
p.V488delFs
c.1463_1464delTG
1 paper
NM_021937.5
p.A482V
c.1445C>T
1 paper
NM_021937.5
p.F522F
c.1566C>T
1 paper
NM_021937.5
p.G523D
c.1568G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."