Varaico: Literature-Extracted Genetic Variants

Gene:RIMBP2
Variant:p.V314M

RIMBP2

56 papers

Pfam Domains

SH3_9aa 191–247UCSCVariant SH3 domain
fn3aa 409–487UCSCFibronectin type III domain
Ig_RIMBP2aa 502–605UCSCRIMBP2-like, immunoglobulin-like domain
SH3_2aa 869–931UCSCVariant SH3 domain
SH3_2aa 973–1034UCSCVariant SH3 domain

Gene Aliases

HGNC Name

RIMS binding protein 2

HGNC Alias Symbols

KIAA0318; MGC15831; RIM-BP2; PPP1R133

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393629.1
p.V314M
c.940G>A
Surrounding Variants
1 paper
NM_001393629.1
p.D291N
c.871G>A
1 paper
NM_001393629.1
p.S286S
c.858C>T
1 paper
NM_001393629.1
p.S347N
c.1040G>A
1 paper
NM_001393629.1
p.R255Q
c.764G>A
1 paper
NM_001393629.1
p.R238K
c.713G>A
1 paper
NM_001393629.1
p.N434N
c.1302C>T
1 paper
NM_001393629.1
p.K450R
c.1349A>G
1 paper
NM_001393629.1
p.Y467*
c.1401T>A
1 paper
NM_001393629.1
p.Y220*
c.660T>G
1 paper
NM_001393629.1
p.Y220*
c.660T>A
1 paper
NM_001393629.1
p.P503S
c.1507C>T
1 paper
NM_001393629.1
p.I521M
c.1563C>G
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