Varaico: Literature-Extracted Genetic Variants

Gene:CSAD
Variant:p.L93H

CSAD

84 papers

RefSeq Summary

This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzi...

Pfam Domains

Pyridoxal_deCaa 49–417UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

cysteine sulfinic acid decarboxylase

HGNC Alias Symbols

PCAP; CSD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001244705.2
p.L93H
c.278T>A
Surrounding Variants
2 papers
NM_001244705.2
p.L93P
c.278T>C
2 papers
NM_001244705.2
p.F94S
c.281T>C
2 papers
NM_001244705.2
p.H100Q
c.300T>G
2 papers
NM_001244705.2
p.H100Q
c.300T>A
2 papers
NM_001244705.2
p.L102V
c.304C>G
1 paper
NM_001244705.2
p.R105H
c.314G>A
1 paper
NM_001244705.2
p.T108T
c.324T>G
1 paper
NM_001244705.2
p.S114N
c.341G>A
1 paper
NM_001244705.2
p.R79C
c.235C>T
1 paper
NM_001244705.2
p.A76V
c.227C>T
1 paper
NM_001244705.2
p.Y116F
c.347A>T
1 paper
NM_001244705.2
p.E119*
c.355G>T
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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."