Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.N62S

STXBP2

244 papers

RefSeq Summary

This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, a...

Pfam Domains

Sec1aa 29–579UCSCSec1 family

Gene Aliases

HGNC Name

syntaxin binding protein 2

HGNC Alias Symbols

UNC18B; Hunc18b; Unc18-2; MUNC18-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006949.4
p.N62S
c.185A>G
Surrounding Variants
4 papers
NM_006949.4
p.N62D
c.184A>G
1 paper
NM_006949.4
p.N62_R65delFs
c.185_195del11
3 papers
NM_006949.4
p.R64W
c.190C>T
6 papers
NM_006949.4
p.R65W
c.193C>T
9 papers
NM_006949.4
p.R65Q
c.194G>A
3 papers
NM_006949.4
p.E59K
c.175G>A
1 paper
NM_006949.4
p.R65R
c.195G>A
2 papers
NM_006949.4
p.V58A
c.173T>C
2 papers
NM_006949.4
p.P69delFs
c.207delC
1 paper
NM_006949.4
p.P69S
c.205C>T
1 paper
NM_006949.4
p.S70G
c.208A>G
1 paper
NM_006949.4
p.L71delFs
c.212_213delTG
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