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.W261*

c.782G>A

Surrounding Variants

1 paper

NM_000430.4

p.R259C

c.775C>T

1 paper

NM_000430.4

p.V258fs

c.772_773fs

1 paper

NM_000430.4

p.V258delFs

c.773_774delTG

1 paper

NM_000430.4

p.T257_V258Fs

c.770_772delinsTGACCCAFs

1 paper

NM_000430.4

p.T257fs

c.769_770fs

1 paper

NM_000430.4

p.K266M

c.797A>T

1 paper

NM_000430.4

p.E267Q

c.799G>C

4 papers

NM_000430.4

p.K269delFs

c.805delA

1 paper

NM_000430.4

p.K269R

c.806A>G

3 papers

NM_000430.4

p.A270T

c.808G>A

1 paper

NM_000430.4

p.A270G

c.809C>G

1 paper

NM_000430.4

p.S251R

c.753C>A