Varaico: Literature-Extracted Genetic Variants

Gene:RIMBP3C
Variant:p.T589A

RIMBP3C

19 papers

Pfam Domains

RIMB1_Naa 371–500UCSCRIMB1-like, N-terminal domain
SH3_2aa 841–897UCSCVariant SH3 domain
Ig_RIMBP2aa 1084–1188UCSCRIMBP2-like, immunoglobulin-like domain
SH3_2aa 1575–1632UCSCVariant SH3 domain

Gene Aliases

HGNC Name

RIMS binding protein 3C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128633.2
p.T589A
c.1765A>G
Surrounding Variants
1 paper
NM_001128633.2
p.S653insFs
c.1958_1959dupCC
1 paper
NM_001128633.2
p.G654fs
c.1960_1961fs
1 paper
NM_001128633.2
p.E437K
c.1309G>A
1 paper
NM_001128633.2
p.E397_N398del2
c.1189_1193del6
1 paper
NM_001128633.2
p.E397_N398del1
c.1190_1192delTCT
2 papers
NM_001128633.2
p.E397del1
c.1189_1190delCTC
1 paper
NM_001128633.2
p.E372E
c.1116G>A
1 paper
NM_001128633.2
p.R259H
c.776G>A
1 paper
NM_001128633.2
p.C968R
c.2902T>C
1 paper
NM_001128633.2
p.E195K
c.583G>A
1 paper
NM_001128633.2
p.V1038M
c.3112G>A
1 paper
NM_001128633.2
p.R133delFs
c.397_398delCG
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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."