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.M64_L65insFs

c.192_193ins4

Surrounding Variants

1 paper

NM_001031698.3

p.L65_P66insFs

c.195_196ins7

1 paper

NM_001031698.3

p.P67T

c.199C>A

1 paper

NM_001031698.3

p.A70insFs

c.209_210insAG

1 paper

NM_001031698.3

p.P58_G59insFs

c.174_175ins4

1 paper

NM_001031698.3

p.P71S

c.211C>T

1 paper

NM_001031698.3

p.M56fs

c.166_167fs

2 papers

NM_001031698.3

p.I53T

c.158T>C

1 paper

NM_001031698.3

p.L43L

c.127C>T

1 paper

NM_001031698.3

p.P40L

c.119C>T

1 paper

NM_001031698.3

p.F38L

c.114T>A

1 paper

NM_001031698.3

p.F38L

c.114T>G

1 paper

NM_001031698.3

p.F38L

c.112T>C