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.P145L

c.434C>T

Surrounding Variants

1 paper

NM_001031698.3

p.W142*

c.426G>A

1 paper

NM_001031698.3

p.W142*

c.425G>A

1 paper

NM_001031698.3

p.E153_L154Splc

c.459+11G>T

1 paper

NM_001031698.3

p.A118fs

c.352_353fs

1 paper

NM_001031698.3

p.P116_R117Splc

c.349-2A>C

1 paper

NM_001031698.3

p.A109V

c.326C>T

1 paper

NM_001031698.3

p.E163Q

c.487G>C

1 paper

NM_001031698.3

p.E163D

c.489G>C

1 paper

NM_001031698.3

p.S166*

c.497C>A

1 paper

NM_001031698.3

p.K170E

c.508A>G

1 paper

NM_001031698.3

p.Y174_N175ins4

c.520_524ins12

1 paper

NM_001031698.3

p.R185Q

c.554G>A