Varaico: Literature-Extracted Genetic Variants

Gene:CSAD
Variant:p.A384V

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.A384V
c.1151C>T
Surrounding Variants
1 paper
NM_001244705.2
p.D382N
c.1144G>A
2 papers
NM_001244705.2
p.R379W
c.1135C>T
1 paper
NM_001244705.2
p.G373D
c.1118G>A
1 paper
NM_001244705.2
p.A346_V354del9
c.1036_1061del27
1 paper
NM_001244705.2
p.S322_N323Splc
c.967-7C>A
1 paper
NM_001244705.2
p.P418S
c.1252C>T
1 paper
NM_001244705.2
p.P419T
c.1255C>A
1 paper
NM_001244705.2
p.R433S
c.1299G>T
1 paper
NM_001244705.2
p.K305K
c.915G>A
2 papers
NM_001244705.2
p.H288R
c.863A>G
1 paper
NM_001244705.2
p.V280I
c.838G>A
1 paper
NM_001244705.2
p.A252P
c.754G>C
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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."