Varaico: Literature-Extracted Genetic Variants

Gene:SH3PXD2A

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
1–12 of 100 variants
2 papers
NM_001394015.1
p.F81S
c.242T>C
2 papers
NM_001394015.1
p.S241F
c.722C>T
2 papers
NM_001394015.1
p.S241Y
c.722C>A
2 papers
NM_001394015.1
p.L1003F
c.3007C>T
1 paper
NM_001394015.1
p.V6M
c.16G>A
1 paper
NM_001394015.1
p.Q7Q
c.21G>A
1 paper
NM_001394015.1
p.V14_R17Fs
c.41_51delinsTFs
1 paper
NM_001394015.1
p.K22E
c.64A>G
1 paper
NM_001394015.1
p.Y24_V25Splc
c.72+1G>T
1 paper
NM_001394015.1
p.Y24_V25Splc
c.72+12711T>A
1 paper
NM_001394015.1
p.V25V
c.75A>G
1 paper
NM_001394015.1
p.N29I
c.86A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."