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

1 paper

NM_173689.7

p.E416K

c.1246G>A

Surrounding Variants

1 paper

NM_173689.7

p.P413H

c.1238C>A

1 paper

NM_173689.7

p.V419V

c.1257C>T

1 paper

NM_173689.7

p.C411_I412delFs

c.1233_1234delCA

1 paper

NM_173689.7

p.V423I

c.1267G>A

1 paper

NM_173689.7

p.L407R

c.1220T>G

1 paper

NM_173689.7

p.P406L

c.1217C>T

1 paper

NM_173689.7

p.T430A

c.1288A>G

2 papers

NM_173689.7

p.P433L

c.1298C>T

1 paper

NM_173689.7

p.T398I

c.1193C>T

1 paper

NM_173689.7

p.D392A

c.1175A>C

1 paper

NM_173689.7

p.T440I

c.1319C>T

1 paper

NM_173689.7

p.R391C

c.1171C>T