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.Q218_Q220delFs

c.653_660del8

Surrounding Variants

1 paper

NM_001031698.3

p.D222_P223delFs

c.664_668del5

1 paper

NM_001031698.3

p.V226fs

c.676_677fs

1 paper

NM_001031698.3

p.P209_Q210insAG

c.625_629ins6

1 paper

NM_001031698.3

p.P232L

c.695C>T

1 paper

NM_001031698.3

p.K203Q

c.607A>C

2 papers

NM_001031698.3

p.L237fs

c.709_710fs

1 paper

NM_001031698.3

p.E258_Q259ins4

c.772_776ins12

1 paper

NM_001031698.3

p.E258*

c.772G>T

1 paper

NM_001031698.3

p.L265M

c.793C>A

1 paper

NM_001031698.3

p.A201V

c.602C>T

1 paper

NM_001031698.3

p.L195_V196ins7

c.583_587ins21

1 paper

NM_001031698.3

p.L192_E193ins4

c.574_578ins12