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.E792D

c.2376G>C

Surrounding Variants

2 papers

NM_173689.7

p.E792D

c.2376G>T

1 paper

NM_173689.7

p.L793H

c.2378T>A

1 paper

NM_173689.7

p.G794S

c.2380G>A

13 papers

NM_173689.7

p.N800K

c.2400C>A

16 papers

NM_173689.7

p.N800K

c.2400C>G

1 paper

NM_173689.7

p.P781T

c.2341C>A

1 paper

NM_173689.7

p.V806I

c.2416G>A

1 paper

NM_173689.7

p.V806D

c.2417T>A

1 paper

NM_173689.7

p.C775*

c.2325C>A

1 paper

NM_173689.7

p.G774S

c.2320G>A

1 paper

NM_173689.7

p.L772V

c.2314C>G

5 papers

NM_173689.7

p.R764*

c.2290C>T