Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2A
Variant:p.S241C

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.S241C
c.722C>G
Surrounding Variants
2 papers
NM_001394015.1
p.S241F
c.722C>T
2 papers
NM_001394015.1
p.S241Y
c.722C>A
1 paper
NM_001394015.1
p.R249W
c.745C>T
1 paper
NM_001394015.1
p.R267P
c.800G>C
1 paper
NM_001394015.1
p.E268Splc
c.802+1424C>T
1 paper
NM_001394015.1
p.V240Splc
c.718+2T>C
1 paper
NM_001394015.1
p.I232_N233insTT
c.694_698ins6
1 paper
NM_001394015.1
p.N224K
c.672T>G
1 paper
NM_001394015.1
p.Q223fs
c.667_668fs
1 paper
NM_001394015.1
p.G213V
c.638G>T
1 paper
NM_001394015.1
p.G302D
c.905G>A
1 paper
NM_001394015.1
p.R307Splc
c.920+1G>C
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