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

1–12 of 407 variants

16 papers

NM_173689.7

p.N800K

c.2400C>G

13 papers

NM_173689.7

p.N800K

c.2400C>A

11 papers

NM_173689.7

p.R628C

c.1882C>T

11 papers

NM_173689.7

p.R633W

c.1897C>T

11 papers

NM_173689.7

p.R1030_P1035insFs

c.3089_3104dup16

10 papers

NM_173689.7

p.G1036fs

c.3106_3107fs

10 papers

NM_173689.7

p.R1249Q

c.3746G>A

9 papers

NM_173689.7

p.C629S

c.1886G>C

9 papers

NM_173689.7

p.E643A

c.1928A>C

8 papers

NM_173689.7

p.W498C

c.1494G>T

8 papers

NM_173689.7

p.C620S

c.1859G>C

8 papers

NM_173689.7

p.C629S

c.1885T>A