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.P1035_G1036insFs

c.3105_3106ins16

Surrounding Variants

2 papers

NM_173689.7

p.G1036_A1037insFs

c.3108_3109ins16

10 papers

NM_173689.7

p.G1036fs

c.3106_3107fs

3 papers

NM_173689.7

p.G1036A

c.3107G>C

1 paper

NM_173689.7

p.G1036_A1037insFs

c.3108_3109ins8

1 paper

NM_173689.7

p.P1035insFs

c.3104dupC

1 paper

NM_173689.7

p.A1033V

c.3098C>T

1 paper

NM_173689.7

p.G1032A

c.3095G>C

1 paper

NM_173689.7

p.H1040Y

c.3118C>T

2 papers

NM_173689.7

p.R1030fs

c.3088_3089fs

2 papers

NM_173689.7

p.F1041S

c.3122T>C

1 paper

NM_173689.7

p.A1042V

c.3125C>T

2 papers

NM_173689.7

p.S1043F

c.3128C>T