Varaico: Literature-Extracted Genetic Variants

CDC40

45 papers

RefSeq Summary

Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in t...

Pfam Domains

WD40aa 278–317UCSCWD domain, G-beta repeat

WD40aa 322–360UCSCWD domain, G-beta repeat

WD40aa 364–404UCSCWD domain, G-beta repeat

WD40aa 408–446UCSCWD domain, G-beta repeat

WD40aa 496–536UCSCWD domain, G-beta repeat

WD40aa 540–579UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

cell division cycle 40

HGNC Alias Symbols

PRP17; EHB3; PRPF17; FLJ10564

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015891.3

p.E385G

c.1154A>G

Surrounding Variants

1 paper

NM_015891.3

p.R369G

c.1105A>G

1 paper

NM_015891.3

p.D404G

c.1211A>G

2 papers

NM_015891.3

p.R406*

c.1216C>T

1 paper

NM_015891.3

p.R406Q

c.1217G>A

1 paper

NM_015891.3

p.I410N

c.1229T>A

1 paper

NM_015891.3

p.D438A

c.1313A>C

1 paper

NM_015891.3

p.S349R

c.1047T>A

1 paper

NM_015891.3

p.S349R

c.1047T>G

1 paper

NM_015891.3

p.S349R

c.1045A>C

1 paper

NM_015891.3

p.V335F

c.1003G>T

1 paper

NM_015891.3

p.T327I

c.980C>T

5 papers

NM_015891.3

p.L315V

c.943C>G