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

5 papers

NM_000430.4

p.R241P

c.722G>C

Surrounding Variants

1 paper

NM_000430.4

p.R241fs

c.721_722fs

1 paper

NM_000430.4

p.R241delFs

c.721delC

1 paper

NM_000430.4

p.N243_Q244insFs

c.728_732dup5

1 paper

NM_000430.4

p.M239fs

c.715_716fs

2 papers

NM_000430.4

p.M239insFs

c.716dupT

2 papers

NM_000430.4

p.Q244*

c.730C>T

3 papers

NM_000430.4

p.R238H

c.713G>A

1 paper

NM_000430.4

p.D245fs

c.733_734fs

1 paper

NM_000430.4

p.D245fs

c.733_734fs

1 paper

NM_000430.4

p.D245A

c.734A>C

1 paper

NM_000430.4

p.W236*

c.708G>A

1 paper

NM_000430.4

p.W236*

c.707G>A