Varaico: Literature-Extracted Genetic Variants

Gene:ABHD11
Variant:p.D116G

ABHD11

22 papers

RefSeq Summary

This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes a...

Pfam Domains

Abhydrolase_1aa 58–294UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 11

HGNC Previous Symbol

WBSCR21

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148912.4
p.D116G
c.347A>G
Surrounding Variants
1 paper
NM_148912.4
p.L114L
c.342G>T
1 paper
NM_148912.4
p.R176insFs
c.527dupG
2 papers
NM_148912.4
p.A181T
c.541G>A
1 paper
NM_148912.4
p.R188H
c.563G>A
1 paper
NM_148912.4
p.T212T
c.636T>C
1 paper
NM_148912.4
p.N213N
c.639C>T
1 paper
NM_148912.4
p.Q244R
c.731A>G
1 paper
NM_148912.4
p.G68S
c.202G>A
1 paper
NM_148912.4
p.A56V
c.167C>T
1 paper
NM_148912.4
p.A277V
c.830C>T
1 paper
NM_148912.4
p.G34C
c.100G>T
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