Varaico: Literature-Extracted Genetic Variants

Gene:EEFSEC
Variant:p.L467P

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.L467P
c.1400T>C
Surrounding Variants
1 paper
NM_021937.5
p.S462N
c.1385G>A
2 papers
NM_021937.5
p.R443P
c.1328G>C
1 paper
NM_021937.5
p.R443W
c.1327C>T
1 paper
NM_021937.5
p.D436N
c.1306G>A
1 paper
NM_021937.5
p.C426*
c.1278C>A
1 paper
NM_021937.5
p.D390A
c.1169A>C
1 paper
NM_021937.5
p.Y379_L380delFs
c.1135_1138del4
1 paper
NM_021937.5
p.A354A
c.1062T>A
1 paper
NM_021937.5
p.R347Q
c.1040G>A
1 paper
NM_021937.5
p.G346_A354del9
c.1036_1061del27
1 paper
NM_021937.5
p.K334T
c.1001A>C
2 papers
NM_021937.5
p.K334R
c.1001A>G
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