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.C1060S

c.3178T>A

Surrounding Variants

1 paper

NM_173689.7

p.C1060Y

c.3179G>A

1 paper

NM_173689.7

p.C1060S

c.3179G>C

4 papers

NM_173689.7

p.P1064S

c.3190C>T

2 papers

NM_173689.7

p.A1057_P1058delFs

c.3171_3172delGC

2 papers

NM_173689.7

p.R1055C

c.3163C>T

1 paper

NM_173689.7

p.C1054*

c.3162C>A

1 paper

NM_173689.7

p.P1050L

c.3149C>T

3 papers

NM_173689.7

p.R1072C

c.3214C>T

3 papers

NM_173689.7

p.L1074_D1076del0

c.3220_3228del9

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.D1076A

c.3227A>C