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.S167P

c.499T>C

Surrounding Variants

1 paper

NM_000430.4

p.S167F

c.500C>T

1 paper

NM_000430.4

p.C168Y

c.503G>A

13 papers

NM_000430.4

p.S169P

c.505T>C

1 paper

NM_000430.4

p.K163*

c.487A>T

1 paper

NM_000430.4

p.G162G

c.486C>T

1 paper

NM_000430.4

p.G162D

c.485G>A

1 paper

NM_000430.4

p.G162V

c.485G>T

1 paper

NM_000430.4

p.M172insFs

c.514dupA

1 paper

NM_000430.4

p.M172fs

c.514_515fs

11 papers

NM_000430.4

p.G162S

c.484G>A

1 paper

NM_000430.4

p.M172T

c.515T>C

1 paper

NM_000430.4

p.M172I

c.516G>A