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.G526E

c.1577G>A

Surrounding Variants

1 paper

NM_015891.3

p.N533S

c.1598A>G

2 papers

NM_015891.3

p.H549P

c.1646A>C

3 papers

NM_015891.3

p.F502C

c.1505T>G

1 paper

NM_015891.3

p.I501V

c.1501A>G