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

3 papers

NM_173689.7

p.D1076A

c.3227A>C

Surrounding Variants

1 paper

NM_173689.7

p.D1073E

c.3219C>A

1 paper

NM_173689.7

p.D1073E

c.3219C>G

3 papers

NM_173689.7

p.L1074_D1076del0

c.3220_3228del9

1 paper

NM_173689.7

p.C1080F

c.3239G>T

3 papers

NM_173689.7

p.R1072C

c.3214C>T

1 paper

NM_173689.7

p.C1082G

c.3244T>G

1 paper

NM_173689.7

p.W1086fs

c.3256_3257fs

1 paper

NM_173689.7

p.W1086_C1091Fs

c.3256_3273delinsCGGCCCGGFs

2 papers

NM_173689.7

p.W1086_C1091Fs

c.3256_3273delinsCGGCCCGGGGTGGFs

1 paper

NM_173689.7

p.E1087G

c.3260A>G

1 paper

NM_173689.7

p.G1088D

c.3263G>A

4 papers

NM_173689.7

p.P1064S

c.3190C>T