Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2A
Variant:p.P363L

SH3PXD2A

138 papers

Pfam Domains

PXaa 30–124UCSCPX domain
SH3_2aa 170–223UCSCVariant SH3 domain
SH3_1aa 272–317UCSCSH3 domain
SH3_1aa 455–499UCSCSH3 domain
SH3_1aa 848–891UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 and PX domains 2A

HGNC Previous Symbol

SH3MD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394015.1
p.P363L
c.1088C>T
Surrounding Variants
1 paper
NM_001394015.1
p.V338M
c.1012G>A
1 paper
NM_001394015.1
p.L334R
c.1001T>G
1 paper
NM_001394015.1
p.R397W
c.1189A>T
1 paper
NM_001365079.1
p.A291delFs
c.873delG
1 paper
NM_001394015.1
p.P422R
c.1265C>G
1 paper
NM_001394015.1
p.R307Splc
c.920+1G>C
1 paper
NM_001394015.1
p.G302D
c.905G>A
1 paper
NM_001394015.1
p.E452*
c.1354G>T
1 paper
NM_001394015.1
p.A475V
c.1424C>T
1 paper
NM_001394015.1
p.E268Splc
c.802+1424C>T
1 paper
NM_001394015.1
p.R505L
c.1514G>T
1 paper
NM_001394015.1
p.E536K
c.1606G>A
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