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

9 papers

NM_173689.7

p.E643A

c.1928A>C

Surrounding Variants

1 paper

NM_173689.7

p.A641T

c.1921G>A

1 paper

NM_173689.7

p.E643Splc

c.1927+10A>T

1 paper

NM_173689.7

p.P638S

c.1912C>T

11 papers

NM_173689.7

p.R633W

c.1897C>T

1 paper

NM_173689.7

p.C631F

c.1892G>T

1 paper

NM_173689.7

p.C631R

c.1891T>C

9 papers

NM_173689.7

p.C629S

c.1886G>C

8 papers

NM_173689.7

p.C629S

c.1885T>A

11 papers

NM_173689.7

p.R628C

c.1882C>T

1 paper

NM_173689.7

p.F627C

c.1880T>G

1 paper

NM_173689.7

p.H626R

c.1877A>G

1 paper

NM_173689.7

p.W624*

c.1872G>A