Varaico: Literature-Extracted Genetic Variants

CDCP1

82 papers

RefSeq Summary

This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-depend...

Pfam Domains

CUB_CDCP1_1aa 30–99UCSCCDCP1 CUB domain

CUB_CDCP1_2aa 107–214UCSCCDCP1 CUB domain

CDCP1_CUB_6aa 218–331UCSCCDCP1 CUB domain

CUB_CDCP1_4thaa 345–432UCSCCDCP1 forth CUB domain

CUB_CDCP1_2aa 429–536UCSCCDCP1 CUB domain

CDCP1_CUB_6aa 542–657UCSCCDCP1 CUB domain

Gene Aliases

HGNC Name

CUB domain containing protein 1

HGNC Alias Symbols

CD318; SIMA135

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022842.5

p.H438P

c.1313A>C

Surrounding Variants

1 paper

NM_022842.5

p.S416N

c.1247G>A

1 paper

NM_022842.5

p.P475S

c.1423C>T

1 paper

NM_022842.5

p.Q525*

c.1573C>T

4 papers

NM_022842.5

p.Q525R

c.1574A>G

1 paper

NM_022842.5

p.V411_T414del4

c.1231_1241del12

1 paper

NM_022842.5

p.E412K

c.1234G>A

1 paper

NM_022842.5

p.N410_V411insTT

c.1228_1232ins6

1 paper

NM_022842.5

p.P363S

c.1087C>T

1 paper

NM_022842.5

p.S356*

c.1067C>G

1 paper

NM_022842.5

p.S356*

c.1067C>A

1 paper

NM_022842.5

p.S350I

c.1049G>T

1 paper

NM_022842.5

p.T548M

c.1643C>T