Varaico: Literature-Extracted Genetic Variants

CRB2

221 papers

RefSeq Summary

This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in ...

Pfam Domains

EGFaa 112–142UCSCEGF-like domain

EGFaa 150–180UCSCEGF-like domain

EGFaa 188–219UCSCEGF-like domain

EGFaa 227–257UCSCEGF-like domain

hEGFaa 292–312UCSCHuman growth factor-like EGF

EGFaa 324–354UCSCEGF-like domain

Gene Aliases

HGNC Name

crumbs cell polarity complex component 2

HGNC Alias Symbols

FLJ38464; FLJ16786

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_173689.7

p.A552S

c.1654G>T

Surrounding Variants

2 papers

NM_173689.7

p.S548C

c.1643C>G

1 paper

NM_173689.7

p.T556M

c.1667C>T

2 papers

NM_173689.7

p.S558L

c.1673C>T

1 paper

NM_173689.7

p.C545Y

c.1634G>A

1 paper

NM_173689.7

p.R543W

c.1627C>T

1 paper

NM_173689.7

p.C540Y

c.1619G>A

1 paper

NM_173689.7

p.R534W

c.1600C>T

1 paper

NM_173689.7

p.L533I

c.1597C>A

1 paper

NM_173689.7

p.T575N

c.1724C>A

1 paper

NM_173689.7

p.L528I

c.1582C>A

1 paper

NM_173689.7

p.V525M

c.1573G>A

1 paper

NM_173689.7

p.C579F

c.1736G>T