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

3 papers

NM_001031698.3

p.V570M

c.1708G>A

Surrounding Variants

1 paper

NM_001031698.3

p.L565ins5

c.1694_1695ins15

14 papers

NM_001031698.3

p.P562S

c.1684C>T

1 paper

NM_001031698.3

p.D548N

c.1642G>A

1 paper

NM_001031698.3

p.A544G

c.1631C>G

1 paper

NM_001031698.3

p.K589_D590Splc

c.1767+178G>A

2 papers

NM_001031698.3

p.Q531*

c.1591C>T

1 paper

NM_001031698.3

p.R513H

c.1538G>A

1 paper

NM_001031698.3

p.R510S

c.1528C>A

1 paper

NM_001031698.3

p.R509*

c.1525C>T

1 paper

NM_001031698.3

p.R505fs

c.1513_1514fs

1 paper

NM_001031698.3

p.A504D

c.1511C>A

1 paper

NM_001031698.3

p.R501Q

c.1502G>A