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.L334_V335Splc

c.1002+1G>A

Surrounding Variants

2 papers

NM_000430.4

p.L334_V335Splc

c.1002+1G>T

1 paper

NM_000430.4

p.L334L

c.1002C>T

3 papers

NM_000430.4

p.L334_V335Splc

c.1002+5G>A

1 paper

NM_000430.4

p.T333N

c.998C>A

3 papers

NM_000430.4

p.L334_V335Splc

c.1002+6T>A

1 paper

NM_000430.4

p.C330*

c.990C>A

1 paper

NM_000430.4

p.W323R

c.967T>A

3 papers

NM_000430.4

p.W323R

c.967T>C

1 paper

NM_000430.4

p.M322T

c.965T>C

2 papers

NM_000430.4

p.M322R

c.965T>G

8 papers

NM_000430.4

p.D317H

c.949G>C

1 paper

NM_000430.4

p.G314E

c.941G>A