Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2A
Variant:p.E616K

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.E616K
c.1846G>A
Surrounding Variants
1 paper
NM_001394015.1
p.R626W
c.1876C>T
1 paper
NM_001394015.1
p.A635V
c.1904C>T
1 paper
NM_001394015.1
p.P586ins1
c.1757_1758insTTC
1 paper
NM_001394015.1
p.G582delFs
c.1746delC
1 paper
NM_001394015.1
p.S572C
c.1714A>T
1 paper
NM_001394015.1
p.P663T
c.1987C>A
1 paper
NM_001394015.1
p.E536K
c.1606G>A
1 paper
NM_001394015.1
p.L718L
c.2154G>A
1 paper
NM_001394015.1
p.R505L
c.1514G>T
1 paper
NM_001394015.1
p.T747_P754del0
c.2239_2262del24
1 paper
NM_001394015.1
p.K759N
c.2277G>T
1 paper
NM_001394015.1
p.S767S
c.2301G>T
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