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.R1269Q

c.3806G>A

Surrounding Variants

1 paper

NM_173689.7

p.G1267delFs

c.3801delG

1 paper

NM_173689.7

p.M1272I

c.3816G>A

1 paper

NM_173689.7

p.M1272I

c.3816G>C

1 paper

NM_173689.7

p.M1272I

c.3816G>T

1 paper

NM_173689.7

p.L1276F

c.3826C>T

1 paper

NM_173689.7

p.P1280L

c.3839C>T

1 paper

NM_173689.7

p.P1280P

c.3840G>A

1 paper

NM_173689.7

p.E1282_R1283delFs

c.3846_3849del4

1 paper

NM_173689.7

p.E1282fs

c.3844_3845fs

1 paper

NM_173689.7

p.G1256D

c.3767G>A

3 papers

NM_173689.7

p.R1252H

c.3755G>A

1 paper

NM_173689.7

p.R1252C

c.3754C>T