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.E380D

c.1140A>C

Surrounding Variants

1 paper

NM_001031698.3

p.E380D

c.1140A>T

1 paper

NM_001031698.3

p.R387C

c.1159C>T

1 paper

NM_001031698.3

p.R387_Y388del1

c.1160_1162delGCT

1 paper

NM_001031698.3

p.R389Q

c.1166G>A

1 paper

NM_001031698.3

p.A368V

c.1103C>T

1 paper

NM_001031698.3

p.R362Q

c.1085G>A

1 paper

NM_001031698.3

p.Y349insFs

c.1045_1046ins5

1 paper

NM_001031698.3

p.K343fs

c.1027_1028fs

1 paper

NM_001031698.3

p.R390Q

c.1169G>A

1 paper

NM_001031698.3

p.Q393_T394del1

c.1178_1180delAGA

1 paper

NM_001031698.3

p.L398_E399insFs

c.1194_1195insT

1 paper

NM_001031698.3

p.E399*

c.1195G>T