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.A51S

c.151G>T

Surrounding Variants

1 paper

NM_015891.3

p.K47N

c.141G>C

1 paper

NM_015891.3

p.K47N

c.141G>T

1 paper

NM_015891.3

p.H39R

c.116A>G

1 paper

NM_015891.3

p.A33V

c.98C>T

1 paper

NM_015891.3

p.A33P

c.97G>C

1 paper

NM_015891.3

p.P32L

c.95C>T

1 paper

NM_015891.3

p.Y12*

c.36T>G

1 paper

NM_015891.3

p.S11S

c.33C>T

1 paper

NM_015891.3

p.S2insFs

c.6dupG