Varaico: Literature-Extracted Genetic Variants

Gene:CSAD
Variant:p.A16V

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
1 paper
NM_001244705.2
p.A16V
c.47C>T
Surrounding Variants
1 paper
NM_001244705.2
p.D13N
c.37G>A
1 paper
NM_001244705.2
p.G12V
c.35G>T
2 papers
NM_001244705.2
p.G12E
c.35G>A
1 paper
NM_001244705.2
p.G12R
c.34G>A
1 paper
NM_001244705.2
p.L20delFs
c.58delA
1 paper
NM_001244705.2
p.L10V
c.28C>G
1 paper
NM_001244705.2
p.E5K
c.13G>A
1 paper
NM_001244705.2
p.T37N
c.110C>A
1 paper
NM_001244705.2
p.S38C
c.112A>T
1 paper
NM_001244705.2
p.A76V
c.227C>T
1 paper
NM_001244705.2
p.R79C
c.235C>T
2 papers
NM_001244705.2
p.L93P
c.278T>C
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