Varaico: Literature-Extracted Genetic Variants

PRPF40B

121 papers

RefSeq Summary

This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative s...

Pfam Domains

WWaa 117–145UCSCWW domain

WWaa 157–186UCSCWW domain

FFaa 300–349UCSCFF domain

FFaa 514–569UCSCFF domain

FF_PRPF40Aaa 576–635UCSCPRPF40A-like, FF domain

FFaa 650–701UCSCFF domain

Gene Aliases

HGNC Name

pre-mRNA processing factor 40B

HGNC Alias Symbol

HYPC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001031698.3

p.Y333*

c.999C>G

Surrounding Variants

1 paper

NM_001031698.3

p.Y333*

c.999C>A

1 paper

NM_001031698.3

p.E321fs

c.961_962fs

1 paper

NM_001031698.3

p.A313fs

c.937_938fs

1 paper

NM_001031698.3

p.R310G

c.928A>G

1 paper

NM_001031698.3

p.R298R

c.894G>A

1 paper

NM_001031698.3

p.R298W

c.892C>T

1 paper

NM_001031698.3

p.N297_R298del2

c.889_893del6

1 paper

NM_001031698.3

p.L293L

c.879C>T

1 paper

NM_001031698.3

p.R290S

c.870G>C

1 paper

NM_001031698.3

p.Q279*

c.835C>T

1 paper

NM_001031698.3

p.K343fs

c.1027_1028fs

1 paper

NM_001031698.3

p.L265M

c.793C>A