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

6 papers

NM_173689.7

p.E643A

c.1928A>C

Surrounding Variants

2 papers

NM_173689.7

p.A654P

c.1960G>C

1 paper

NM_173689.7

p.S656N

c.1967G>A

1 paper

NM_173689.7

p.S659F

c.1976C>T

1 paper

NM_173689.7

p.G667R

c.1999G>C

1 paper

NM_173689.7

p.E643Splc

c.1927+10A>T

9 papers

NM_173689.7

p.E643A

c.1928A>C

1 paper

NM_173689.7

p.A641T

c.1921G>A

2 papers

NM_173689.7

p.R677C

c.2029C>T

1 paper

NM_173689.7

p.P638S

c.1912C>T

1 paper

NM_173689.7

p.S681S

c.2043C>T

11 papers

NM_173689.7

p.R633W

c.1897C>T

1 paper

NM_173689.7

p.C631F

c.1892G>T