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

2 papers

NM_000430.4

p.T229T

c.687A>T

Surrounding Variants

1 paper

NM_000430.4

p.K228fs

c.682_683fs

1 paper

NM_000430.4

p.V227insFs

c.681dupG

1 paper

NM_000430.4

p.V227fs

c.679_680fs

1 paper

NM_000430.4

p.Y225*

c.675C>A

1 paper

NM_000430.4

p.Y225*

c.675C>G

1 paper

NM_000430.4

p.E235delFs

c.703_704delGA

1 paper

NM_000430.4

p.V227delFs

c.680_681delTG

1 paper

NM_000430.4

p.E235fs

c.703_704fs

1 paper

NM_000430.4

p.E235*

c.703G>T

1 paper

NM_000430.4

p.W236*

c.707G>A

1 paper

NM_000430.4

p.W236*

c.708G>A

1 paper

NM_000430.4

p.G224Splc

c.672-10A>C