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.M1I

c.3G>T

Surrounding Variants

1 paper

NM_000430.4

p.M1I

c.3G>A

2 papers

NM_000430.4

p.M1I

c.3G>C

1 paper

NM_000430.4

p.M1_V2insFs

c.3_4insCA

1 paper

NM_000430.4

p.V2insFs

c.4_5insCA

1 paper

NM_000430.4

p.V2insFs

c.5dupT

4 papers

NM_000430.4

p.M1insFs

c.3dupG

1 paper

NM_000430.4

p.V2insFs

c.5_6ins4

1 paper

NM_000430.4

p.S4P

c.10T>C

1 paper

NM_000430.4

p.Q5delFs

c.13delC

2 papers

NM_000430.4

p.Q5insFs

c.14dupA

1 paper

NM_000430.4

p.R6insFs

c.16dupA

1 paper

NM_000430.4

p.Q7*

c.19C>T