Varaico: Literature-Extracted Genetic Variants

Gene:SH3RF3
Variant:p.Y247C

SH3RF3

72 papers

Pfam Domains

zf-RING_UBOXaa 57–95UCSCRING-type zinc-finger
SH3_1aa 200–245UCSCSH3 domain
SH3_1aa 262–311UCSCSH3 domain
SH3_1aa 470–517UCSCSH3 domain
SH3_9aa 830–880UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 domain containing ring finger 3

HGNC Previous Symbol

SH3MD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099289.3
p.Y247C
c.740A>G
Surrounding Variants
1 paper
NM_001099289.3
p.A257G
c.770C>G
1 paper
NM_001099289.3
p.E235Q
c.703G>C
1 paper
NM_001099289.3
p.E235*
c.703G>T
1 paper
NM_001099289.3
p.M269V
c.805A>G
2 papers
NM_001099289.3
p.R225C
c.673C>T
1 paper
NM_001099289.3
p.K276N
c.828G>C
1 paper
NM_001099289.3
p.K276N
c.828G>T
2 papers
NM_001099289.3
p.G207E
c.620G>A
1 paper
NM_001099289.3
p.P197L
c.590C>T
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