Varaico: Literature-Extracted Genetic Variants

Gene:SRBD1

SRBD1

76 papers

Pfam Domains

Tex_Naa 212–286UCSCTex-like protein N-terminal domain
Tex_central_regionaa 342–521UCSCTex central region-like
Tex_YqgFaa 537–663UCSCTex protein YqgF-like domain
HHH_3aa 703–767UCSCHelix-hairpin-helix motif
HHH_9aa 821–898UCSCHHH domain
S1aa 915–991UCSCS1 RNA binding domain

Gene Aliases

HGNC Name

S1 RNA binding domain 1

HGNC Alias Symbol

FLJ10379

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
6 papers
NM_018079.5
p.K811R
c.2432A>G
3 papers
NM_018079.5
p.V798F
c.2392G>T
2 papers
NM_018079.5
p.E42K
c.124G>A
2 papers
NM_018079.5
p.E138K
c.412G>A
2 papers
NM_018079.5
p.P198L
c.593C>T
2 papers
NM_018079.5
p.T449M
c.1346C>T
2 papers
NM_018079.5
p.P535L
c.1604C>T
2 papers
NM_018079.5
p.P822A
c.2464C>G
2 papers
NM_018079.5
p.R838Splc
c.2513+1G>T
1 paper
NM_018079.5
p.A8V
c.23C>T
1 paper
NM_018079.5
p.V10E
c.29T>A
1 paper
NM_018079.5
p.E20K
c.58G>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."