Varaico: Literature-Extracted Genetic Variants

Gene:RIMBP3
Variant:p.C1188_R1190del3

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
1 paper
NM_015672.2
p.C1188_R1190del3
c.3562_3569del9
Surrounding Variants
2 papers
NM_015672.2
p.M1187_H1189del3
c.3559_3566del9
1 paper
NM_015672.2
p.S1173F
c.3518C>T
1 paper
NM_015672.2
p.P1223A
c.3667C>G
1 paper
NM_015672.2
p.T1158M
c.3473C>T
1 paper
NM_015672.2
p.G1144fs
c.3430_3431fs
1 paper
NM_015672.2
p.A1143insFs
c.3429dupT
1 paper
NM_015672.2
p.G1125D
c.3374G>A
1 paper
NM_015672.2
p.E1263A
c.3788A>C
1 paper
NM_015672.2
p.P1100S
c.3298C>T
3 papers
NM_015672.2
p.D1091E
c.3273T>G
3 papers
NM_015672.2
p.D1091E
c.3273T>A
1 paper
NM_015672.2
p.S1314Y
c.3941C>A
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