Varaico: Literature-Extracted Genetic Variants

CRB1

732 papers

RefSeq Summary

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly pho...

Pfam Domains

EGFaa 5–36UCSCEGF-like domain

hEGFaa 50–71UCSCHuman growth factor-like EGF

EGFaa 83–113UCSCEGF-like domain

EGFaa 121–151UCSCEGF-like domain

EGFaa 159–189UCSCEGF-like domain

EGFaa 197–228UCSCEGF-like domain

Gene Aliases

HGNC Name

crumbs cell polarity complex component 1

HGNC Previous Symbol

RP12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201253.3

p.N528K

c.1584C>A

Surrounding Variants

1 paper

NM_201253.3

p.D530Y

c.1588G>T

1 paper

NM_201253.3

p.D530delFs

c.1590delT

1 paper

NM_201253.3

p.R526P

c.1577G>C

42 papers

NM_201253.3

p.R526*

c.1576C>T

NM_001257965.2

p.R457*

c.1369C>T

1 paper

NM_201253.3

p.F525S

c.1574T>C

1 paper

NM_001257965.2

p.F456L

c.1366T>C

1 paper

NM_201253.3

p.F525_S527del3

c.1573_1580del9

1 paper

NM_201253.3

p.L524P

c.1571T>C

1 paper

NM_201253.3

p.L524fs

c.1570_1571fs

1 paper

NM_201253.3

p.L524delFs

c.1570delC

1 paper

NM_201253.3

p.L523Q

c.1568T>A

2 papers

NM_201253.3

p.L523fs

c.1567_1568fs