Varaico: Literature-Extracted Genetic Variants

Gene:SH3RF2
Variant:p.R540H

SH3RF2

63 papers

Pfam Domains

zf-RING_2aa 10–53UCSCRing finger domain
SH3_2aa 129–182UCSCVariant SH3 domain
SH3_1aa 193–244UCSCSH3 domain
SH3_9aa 387–437UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing ring finger 2

HGNC Previous Symbol

PPP1R39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152550.4
p.R540H
c.1619G>A
Surrounding Variants
1 paper
NM_152550.4
p.S541N
c.1622G>A
1 paper
NM_152550.4
p.Q550K
c.1648C>A
1 paper
NM_152550.4
p.Q555Q
c.1665G>A
1 paper
NM_152550.4
p.S564fs
c.1690_1691fs
2 papers
NM_152550.4
p.W592R
c.1774T>A
2 papers
NM_152550.4
p.W592R
c.1774T>C
1 paper
NM_152550.4
p.W592*
c.1775G>A
1 paper
NM_152550.4
p.W592*
c.1776G>A
1 paper
NM_152550.4
p.A596V
c.1787C>T
2 papers
NM_152550.4
p.V643M
c.1927G>A
1 paper
NM_152550.4
p.Y648Y
c.1944C>T
2 papers
NM_152550.4
p.V687I
c.2059G>A
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