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.R717*

c.2149C>T

Surrounding Variants

1 paper

NM_001031698.3

p.G723D

c.2168G>A

1 paper

NM_001031698.3

p.K725N

c.2175G>C

1 paper

NM_001031698.3

p.K725N

c.2175G>T

1 paper

NM_001031698.3

p.R730C

c.2188C>T

1 paper

NM_001031698.3

p.P745L

c.2234C>T

1 paper

NM_001031698.3

p.R750W

c.2248C>T

1 paper

NM_001031698.3

p.R699Q

c.2096G>A

1 paper

NM_001031698.3

p.R696W

c.2086C>T

1 paper

NM_001031698.3

p.R754fs

c.2260_2261fs

1 paper

NM_001031698.3

p.R757R

c.2271G>A

1 paper

NM_001031698.3

p.E691D

c.2073G>T

1 paper

NM_001031698.3

p.G763D

c.2288G>A