Varaico: Literature-Extracted Genetic Variants

Gene:RIMBP3
Variant:p.A396_E397del2

RIMBP3

49 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 3

HGNC Alias Symbols

KIAA1666; RIMBP3.1; RIMBP3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015672.2
p.A396_E397del2
c.1186_1190del6
Surrounding Variants
1 paper
NM_015672.2
p.A396_E397del1
c.1188_1190delTCC
3 papers
NM_015672.2
p.A396_E397del1
c.1187_1189delCCG
2 papers
NM_015672.2
p.A396E
c.1187C>A
1 paper
NM_015672.2
p.T393I
c.1178C>T
1 paper
NM_015672.2
p.S330S
c.990G>A
1 paper
NM_015672.2
p.V536G
c.1607T>G
1 paper
NM_015672.2
p.R538C
c.1612C>T
1 paper
NM_015672.2
p.E565K
c.1693G>A
1 paper
NM_015672.2
p.E576*
c.1726G>T
2 papers
NM_015672.2
p.S653_G654insFs
c.1959_1960insCC
1 paper
NM_015672.2
p.G654fs
c.1960_1961fs
2 papers
NM_015672.2
p.A132_R133delFs
c.396_397delGG
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