Varaico: Literature-Extracted Genetic Variants

Gene:CSAD
Variant:p.R444fs

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.R444fs
c.1330_1331fs
Surrounding Variants
1 paper
NM_001244705.2
p.R444delFs
c.1331_1332delGC
1 paper
NM_001244705.2
p.A438S
c.1312G>T
1 paper
NM_001244705.2
p.Y455C
c.1364A>G
1 paper
NM_001244705.2
p.T475I
c.1424C>T
1 paper
NM_001244705.2
p.M479I
c.1437G>T
1 paper
NM_001244705.2
p.M479I
c.1437G>C
1 paper
NM_001244705.2
p.M479I
c.1437G>A
1 paper
NM_001244705.2
p.D480E
c.1440C>G
1 paper
NM_001244705.2
p.E485Q
c.1453G>C
1 paper
NM_001244705.2
p.Q491*
c.1471C>T
1 paper
NM_001244705.2
p.R433S
c.1299G>T
1 paper
NM_001244705.2
p.P419T
c.1255C>A
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