Varaico: Literature-Extracted Genetic Variants

ABHD16A

62 papers

RefSeq Summary

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibi...

Pfam Domains

ABHD16_Naa 2–152UCSCPhosphatidylserine Lipase ABHD16 N-terminal domain

Abhydrolase_1aa 280–415UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

abhydrolase domain containing 16A, phospholipase

HGNC Previous Symbol

BAT5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 101 variants

3 papers

NM_021160.3

p.R114*

c.340C>T

3 papers

NM_021160.3

p.R184L

c.551G>T

3 papers

NM_021160.3

p.R252Q

c.755G>A

3 papers

NM_021160.3

p.S355A

c.1063T>G

3 papers

NM_021160.3

p.L409R

c.1226T>G

3 papers

NM_021160.3

p.R457Q

c.1370G>A

2 papers

NM_021160.3

p.A2A

c.6G>C

2 papers

NM_021160.3

p.R118H

c.353G>A

2 papers

NM_021160.3

p.N121I

c.362A>T

2 papers

NM_021160.3

p.R184H

c.551G>A

2 papers

NM_021160.3

p.G191delFs

c.573delC

2 papers

NM_021160.3

p.Q279*

c.835C>T