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.V607fs

c.1819_1820fs

Surrounding Variants

2 papers

NM_001031698.3

p.V607I

c.1819G>A

1 paper

NM_001031698.3

p.R613fs

c.1837_1838fs

1 paper

NM_001031698.3

p.A614V

c.1841C>T

1 paper

NM_001031698.3

p.A616V

c.1847C>T

1 paper

NM_001031698.3

p.R591Q

c.1772G>A

1 paper

NM_001031698.3

p.R591W

c.1771C>T

1 paper

NM_001031698.3

p.L629insFs

c.1885_1886insA

1 paper

NM_001031698.3

p.E631D

c.1893G>C

1 paper

NM_001031698.3

p.E631D

c.1893G>T

1 paper

NM_001031698.3

p.E634D

c.1902G>C

1 paper

NM_001031698.3

p.E634D

c.1902G>T

1 paper

NM_001031698.3

p.R636Q

c.1907G>A