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

3 papers

NM_000430.4

p.S289*

c.866C>A

Surrounding Variants

3 papers

NM_000430.4

p.S289*

c.866C>G

1 paper

NM_000430.4

p.Y290delFs

c.869_870delAT

1 paper

NM_000430.4

p.Y290fs

c.868_869fs

1 paper

NM_000430.4

p.P286S

c.856C>T

2 papers

NM_000430.4

p.W284*

c.852G>A

2 papers

NM_000430.4

p.W284*

c.851G>A

1 paper

NM_000430.4

p.S283_A285delFs

c.849_853del5

1 paper

NM_000430.4

p.C281R

c.841T>C

1 paper

NM_000430.4

p.S299delFs

c.897delT

1 paper

NM_000430.4

p.E300fs

c.898_899fs

1 paper

NM_000430.4

p.E300G

c.899A>G

1 paper

NM_000430.4

p.E300E

c.900G>A