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

7 papers

NM_173689.7

p.W498C

c.1494G>C

Surrounding Variants

8 papers

NM_173689.7

p.W498C

c.1494G>T

1 paper

NM_173689.7

p.L497H

c.1490T>A

4 papers

NM_173689.7

p.W498_V506del9

c.1492_1517del27

1 paper

NM_173689.7

p.A495V

c.1484C>T

1 paper

NM_173689.7

p.V506I

c.1516G>A

1 paper

NM_173689.7

p.L512M

c.1534C>A

2 papers

NM_173689.7

p.E485Q

c.1453G>C

1 paper

NM_173689.7

p.S483R

c.1449C>A

1 paper

NM_173689.7

p.S483R

c.1449C>G

1 paper

NM_173689.7

p.S483R

c.1447A>C

1 paper

NM_173689.7

p.N478T

c.1433A>C

1 paper

NM_173689.7

p.N478S

c.1433A>G