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.G445V

c.1334G>T

Surrounding Variants

1 paper

NM_001031698.3

p.K440fs

c.1318_1319fs

2 papers

NM_001031698.3

p.T454M

c.1361C>T

1 paper

NM_001031698.3

p.Q460R

c.1379A>G

1 paper

NM_001031698.3

p.Q427fs

c.1279_1280fs

1 paper

NM_001031698.3

p.M463I

c.1389G>A

1 paper

NM_001031698.3

p.M463I

c.1389G>C

1 paper

NM_001031698.3

p.M463I

c.1389G>T

1 paper

NM_001031698.3

p.D464N

c.1390G>A

1 paper

NM_001031698.3

p.D415_V416del1

c.1244_1246delATG

1 paper

NM_001031698.3

p.V412fs

c.1234_1235fs

1 paper

NM_001031698.3

p.D408E

c.1224T>A

1 paper

NM_001031698.3

p.D408E

c.1224T>G