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.R9delFs

c.25delC

Surrounding Variants

2 papers

NM_001031698.3

p.R9fs

c.25_26fs

1 paper

NM_001031698.3

p.D5N

c.13G>A

1 paper

NM_001031698.3

p.P4P

c.12C>T

1 paper

NM_001031698.3

p.P11fs

c.31_32fs

1 paper

NM_001031698.3

p.F17L

c.51C>A

1 paper

NM_001031698.3

p.P21fs

c.61_62fs

1 paper

NM_001031698.3

p.M23fs

c.67_68fs

1 paper

NM_001031698.3

p.M24fs

c.70_71fs

1 paper

NM_001031698.3

p.P31_I34del0

c.93_101del9

1 paper

NM_001031698.3

p.P32Q

c.95C>A

1 paper

NM_001031698.3

p.P36fs

c.106_107fs

1 paper

NM_001031698.3

p.F38L

c.112T>C