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.R1119C

c.3355C>T

Surrounding Variants

1 paper

NM_173689.7

p.P1121L

c.3362C>T

3 papers

NM_173689.7

p.R1115C

c.3343C>T

1 paper

NM_173689.7

p.G1123C

c.3367G>T

1 paper

NM_173689.7

p.G1125W

c.3373G>T

2 papers

NM_173689.7

p.H1111Y

c.3331C>T

1 paper

NM_173689.7

p.P1127L

c.3380C>T

3 papers

NM_173689.7

p.T1110M

c.3329C>T

2 papers

NM_173689.7

p.R1128C

c.3382C>T

1 paper

NM_173689.7

p.H1109D

c.3325C>G

2 papers

NM_173689.7

p.C1129S

c.3385T>A

4 papers

NM_173689.7

p.C1129R

c.3385T>C

2 papers

NM_173689.7

p.C1129S

c.3386G>C