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.G1088D

c.3263G>A

Surrounding Variants

1 paper

NM_173689.7

p.P1089S

c.3265C>T

1 paper

NM_173689.7

p.E1087G

c.3260A>G

1 paper

NM_173689.7

p.R1090G

c.3268C>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.E1092K

c.3274G>A

1 paper

NM_173689.7

p.C1091_P1097Fs

c.3273_3291delinsCGGCCCGGFs

1 paper

NM_173689.7

p.H1094Y

c.3280C>T

1 paper

NM_173689.7

p.C1082G

c.3244T>G

1 paper

NM_173689.7

p.C1080F

c.3239G>T

2 papers

NM_173689.7

p.P1097_C1098delFs

c.3291_3292delCT