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.C1231G

c.3691T>G

Surrounding Variants

1 paper

NM_173689.7

p.C1231W

c.3693T>G

1 paper

NM_173689.7

p.C1233_L1234del2

c.3697_3701del6

1 paper

NM_173689.7

p.C1233ins1

c.3698_3699insCCT

4 papers

NM_173689.7

p.C1233_L1234del1

c.3699_3701delCCT

2 papers

NM_173689.7

p.L1239del1

c.3715_3716delCTG

3 papers

NM_173689.7

p.L1222P

c.3665T>C

1 paper

NM_173689.7

p.L1242F

c.3724C>T

2 papers

NM_173689.7

p.P1217L

c.3650C>T

6 papers

NM_173689.7

p.R1249G

c.3745C>G

10 papers

NM_173689.7

p.R1249Q

c.3746G>A

1 paper

NM_173689.7

p.R1251C

c.3751C>T

1 paper

NM_173689.7

p.R1252C

c.3754C>T