Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1

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
1–12 of 366 variants
18 papers
NM_000430.4
p.H149R
c.446A>G
15 papers
NM_000430.4
p.F31S
c.92T>C
13 papers
NM_000430.4
p.S169P
c.505T>C
11 papers
NM_000430.4
p.G162S
c.484G>A
9 papers
NM_000430.4
p.R8*
c.22C>T
9 papers
NM_000430.4
p.K54insFs
c.162dupA
9 papers
NM_000430.4
p.R273*
c.817C>T
8 papers
NM_000430.4
p.D317H
c.949G>C
7 papers
NM_000430.4
p.L19R
c.56T>G
7 papers
NM_000430.4
p.K54delFs
c.162delA
7 papers
NM_000430.4
p.K64*
c.190A>T
7 papers
NM_000430.4
p.R144*
c.430C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."