Varaico: Literature-Extracted Genetic Variants

Gene:SRBD1
Variant:p.A8V

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
Selected Variant
1 paper
NM_018079.5
p.A8V
c.23C>T
Surrounding Variants
1 paper
NM_018079.5
p.V10E
c.29T>A
1 paper
NM_018079.5
p.E20K
c.58G>A
1 paper
NM_018079.5
p.S31P
c.91T>C
2 papers
NM_018079.5
p.E42K
c.124G>A
1 paper
NM_018079.5
p.R66Q
c.197G>A
1 paper
NM_018079.5
p.V80V
c.240C>T
1 paper
NM_018079.5
p.A94S
c.280G>T
1 paper
NM_018079.5
p.V127A
c.380T>C
1 paper
NM_018079.5
p.K132fs
c.394_395fs
1 paper
NM_018079.5
p.K132delFs
c.395delT
2 papers
NM_018079.5
p.E138K
c.412G>A
1 paper
NM_018079.5
p.W161L
c.482G>T
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