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

2 papers

NM_173689.7

p.P1097_C1098delFs

c.3291_3292delCT

Surrounding Variants

1 paper

NM_173689.7

p.C1098S

c.3292T>A

1 paper

NM_173689.7

p.C1098fs

c.3292_3293fs

1 paper

NM_173689.7

p.C1098S

c.3293G>C

1 paper

NM_173689.7

p.H1099L

c.3296A>T

1 paper

NM_173689.7

p.H1094Y

c.3280C>T

1 paper

NM_173689.7

p.A1101P

c.3301G>C

1 paper

NM_173689.7

p.C1091_P1097Fs

c.3273_3291delinsCGGCCCGGFs

1 paper

NM_173689.7

p.E1092K

c.3274G>A

1 paper

NM_173689.7

p.C1103R

c.3307T>C

1 paper

NM_173689.7

p.A1104T

c.3310G>A

1 paper

NM_173689.7

p.R1090G

c.3268C>G

2 papers

NM_173689.7

p.R1105C

c.3313C>T