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.P208L

c.623C>T

Surrounding Variants

1 paper

NM_015891.3

p.K177N

c.531G>C

1 paper

NM_015891.3

p.K177N

c.531G>T

1 paper

NM_015891.3

p.D217N

c.649G>A

1 paper

NM_015891.3

p.V148M

c.442G>A

1 paper

NM_015891.3

p.I257insFs

c.769_770insA

1 paper

NM_015891.3

p.L265Q

c.794T>A

1 paper

NM_015891.3

p.G290D

c.869G>A

5 papers

NM_015891.3

p.L315V

c.943C>G

1 paper

NM_015891.3

p.T327I

c.980C>T

1 paper

NM_015891.3

p.Q127*

c.379C>T

1 paper

NM_015891.3

p.T101_A106ins2

c.301_318dup18

1 paper

NM_015891.3

p.P95A

c.283C>G