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.Y24insFs

c.71_72dupAT

Surrounding Variants

1 paper

NM_000430.4

p.Y24C

c.71A>G

1 paper

NM_000430.4

p.Y24*

c.72T>A

1 paper

NM_000430.4

p.Y24*

c.72T>G

1 paper

NM_000430.4

p.E25del1

c.73_74delGAA

1 paper

NM_000430.4

p.E25fs

c.73_74fs

1 paper

NM_000430.4

p.E25A

c.74A>C

1 paper

NM_000430.4

p.A27P

c.79G>C

1 paper

NM_000430.4

p.R20S

c.58C>A

1 paper

NM_000430.4

p.Y28delFs

c.83_84delAT

1 paper

NM_000430.4

p.L19H

c.56T>A

7 papers

NM_000430.4

p.L19R

c.56T>G

1 paper

NM_000430.4

p.Y28fs

c.82_83fs