Varaico: Literature-Extracted Genetic Variants

CUBN

519 papers

RefSeq Summary

Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine...

Pfam Domains

EGFaa 136–166UCSCEGF-like domain

EGF_CAaa 170–217UCSCCalcium-binding EGF domain

EGF_CAaa 263–303UCSCCalcium-binding EGF domain

EGF_CAaa 305–347UCSCCalcium-binding EGF domain

EGF_3aa 353–388UCSCEGF domain

EGFaa 399–428UCSCEGF-like domain

Gene Aliases

HGNC Name

cubilin

HGNC Previous Symbol

MGA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001081.4

p.P654H

c.1961C>A

Surrounding Variants

1 paper

NM_001081.4

p.G653A

c.1958G>C

2 papers

NM_001081.4

p.G653R

c.1957G>C

1 paper

NM_001081.4

p.G653S

c.1957G>A

8 papers

NM_001081.4

p.R651*

c.1951C>T

8 papers

NM_001081.4

p.R651G

c.1951C>G

2 papers

NM_001081.4

p.P672P

c.2016G>A

1 paper

NM_001081.4

p.F684I

c.2050T>A

1 paper

NM_001081.4

p.Q689Q

c.2067G>A

2 papers

NM_001081.4

p.I690V

c.2068A>G

1 paper

NM_001081.4

p.S691I

c.2072G>T

1 paper

NM_001081.4

p.F695V

c.2083T>G

1 paper

NM_001081.4

p.T713M

c.2138C>T