Varaico: Literature-Extracted Genetic Variants

PAFAH1B1

247 papers

RefSeq Summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit ...

Pfam Domains

LisH_PAC1aa 5–40UCSCPAC1 LisH domain

WD40aa 99–136UCSCWD domain, G-beta repeat

WD40aa 140–178UCSCWD domain, G-beta repeat

WD40aa 182–220UCSCWD domain, G-beta repeat

WD40aa 224–262UCSCWD domain, G-beta repeat

WD40aa 266–324UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

platelet activating factor acetylhydrolase 1b regulatory subunit 1

HGNC Previous Symbol

MDCR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000430.4

p.T150A

c.448A>G

Surrounding Variants

18 papers

NM_000430.4

p.H149R

c.446A>G

1 paper

NM_000430.4

p.H149Y

c.445C>T

1 paper

NM_000430.4

p.S152delFs

c.455_456delCT

1 paper

NM_000430.4

p.G148fs

c.442_443fs

1 paper

NM_000430.4

p.S152fs

c.454_455fs

1 paper

NM_000430.4

p.K147insFs

c.441dupA

1 paper

NM_000430.4

p.L146P

c.437T>C

1 paper

NM_000430.4

p.L146V

c.436C>G

1 paper

NM_000430.4

p.Q154*

c.460C>T

2 papers

NM_000430.4

p.R144Q

c.431G>A

7 papers

NM_000430.4

p.R144*

c.430C>T

1 paper

NM_000430.4

p.F142S

c.425T>C