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.C281R

c.841T>C

Surrounding Variants

1 paper

NM_000430.4

p.S283_A285delFs

c.849_853del5

2 papers

NM_000430.4

p.W284*

c.851G>A

4 papers

NM_000430.4

p.H277P

c.830A>C

1 paper

NM_000430.4

p.H277R

c.830A>G

2 papers

NM_000430.4

p.W284*

c.852G>A

1 paper

NM_000430.4

p.H277fs

c.829_830fs

1 paper

NM_000430.4

p.H277insFs

c.829dupC

1 paper

NM_000430.4

p.P286S

c.856C>T

9 papers

NM_000430.4

p.R273*

c.817C>T

3 papers

NM_000430.4

p.S289*

c.866C>A

3 papers

NM_000430.4

p.S289*

c.866C>G

1 paper

NM_000430.4

p.Y290delFs

c.869_870delAT