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

1–12 of 173 variants

14 papers

NM_001031698.3

p.P405L

c.1214C>T

14 papers

NM_001031698.3

p.P562S

c.1684C>T

3 papers

NM_001031698.3

p.V570M

c.1708G>A

2 papers

NM_001031698.3

p.R9fs

c.25_26fs

2 papers

NM_001031698.3

p.I53T

c.158T>C

2 papers

NM_001031698.3

p.L237fs

c.709_710fs

2 papers

NM_001031698.3

p.T454M

c.1361C>T

2 papers

NM_001031698.3

p.Q531*

c.1591C>T

2 papers

NM_001031698.3

p.V607I

c.1819G>A

2 papers

NM_001031698.3

p.V680M

c.2038G>A

1 paper

NM_001031698.3

p.P4P

c.12C>T

1 paper

NM_001031698.3

p.D5N

c.13G>A