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

2 papers

NM_173689.7

p.R610L

c.1829G>T

Surrounding Variants

6 papers

NM_173689.7

p.R610W

c.1828C>T

1 paper

NM_173689.7

p.C609*

c.1827C>A

2 papers

NM_173689.7

p.P613_S619del7

c.1837_1856del21

1 paper

NM_173689.7

p.C614S

c.1840T>A

2 papers

NM_173689.7

p.R606Q

c.1817G>A

1 paper

NM_173689.7

p.C614Y

c.1841G>A

1 paper

NM_173689.7

p.C614S

c.1841G>C

1 paper

NM_173689.7

p.R605H

c.1814G>A

3 papers

NM_173689.7

p.R605C

c.1813C>T

7 papers

NM_173689.7

p.C620S

c.1858T>A

8 papers

NM_173689.7

p.C620S

c.1859G>C

1 paper

NM_173689.7

p.V621_D622delFs

c.1863_1866del4