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.K46Q

c.136A>C

Surrounding Variants

1 paper

NM_000430.4

p.K46fs

c.136_137fs

1 paper

NM_000430.4

p.K46delFs

c.136_137delAA

2 papers

NM_000430.4

p.L43S

c.128T>C

1 paper

NM_000430.4

p.L51delFs

c.152delT

2 papers

NM_000430.4

p.E41K

c.121G>A

1 paper

NM_000430.4

p.L51fs

c.151_152fs

1 paper

NM_000430.4

p.L51S

c.152T>C

9 papers

NM_000430.4

p.K54insFs

c.162dupA

7 papers

NM_000430.4

p.K54delFs

c.162delA

1 paper

NM_000430.4

p.E52fs

c.154_155fs

1 paper

NM_000430.4

p.K54fs

c.160_161fs

5 papers

NM_000430.4

p.W55R

c.163T>A