Varaico: Literature-Extracted Genetic Variants

CCBE1

102 papers

RefSeq Summary

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, s...

Pfam Domains

EGF_CAaa 134–174UCSCCalcium-binding EGF domain

Collagenaa 245–293UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen and calcium binding EGF domains 1

HGNC Alias Symbols

FLJ30681; KIAA1983

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133459.4

p.P249S

c.745C>T

Surrounding Variants

1 paper

NM_133459.4

p.G250D

c.749G>A

1 paper

NM_133459.4

p.P252S

c.754C>T

1 paper

NM_133459.4

p.G256D

c.767G>A

7 papers

NM_133459.4

p.L229fs

c.685_686fs

1 paper

NM_133459.4

p.L229fs

c.685_686fs

6 papers

NM_133459.4

p.D228insFs

c.683_684insT

1 paper

NM_133459.4

p.A220V

c.659C>T

2 papers

NM_133459.4

p.K218_I219Splc

c.654+5G>C

1 paper

NM_133459.4

p.K203N

c.609G>T

1 paper

NM_133459.4

p.K203N

c.609G>C

3 papers

NM_133459.4

p.T201I

c.602C>T

1 paper

NM_133459.4

p.H186R

c.557A>G