Varaico: Literature-Extracted Genetic Variants

Gene:INSYN2B
Variant:p.P48R

INSYN2B

41 papers

Pfam Domains

FAM196aa 3–535UCSCFAM196 family

Gene Aliases

HGNC Name

inhibitory synaptic factor family member 2B

HGNC Previous Symbols

C5orf57; FAM196B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001129891.3
p.P48R
c.143C>G
Surrounding Variants
2 papers
NM_001129891.3
p.R31M
c.92G>T
1 paper
NM_001129891.3
p.P77T
c.229C>A
1 paper
NM_001129891.3
p.S80S
c.240G>A
1 paper
NM_001129891.3
p.R93H
c.278G>A
1 paper
NM_001129891.3
p.S100S
c.300C>A
1 paper
NM_001129891.3
p.F107fs
c.319_320fs
1 paper
NM_001129891.3
p.F107delFs
c.321delG
1 paper
NM_001129891.3
p.S146S
c.438T>C
1 paper
NM_001129891.3
p.L157F
c.469C>T
1 paper
NM_001129891.3
p.P161S
c.481C>T
2 papers
NM_001129891.3
p.V166L
c.496G>T
3 papers
NM_001129891.3
p.V166L
c.496G>C
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