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

4 papers

NM_001081.4

p.S829L

c.2486C>T

Surrounding Variants

1 paper

NM_001081.4

p.S829S

c.2487G>A

1 paper

NM_001081.4

p.R828H

c.2483G>A

1 paper

NM_001081.4

p.P830L

c.2489C>T

1 paper

NM_001081.4

p.F832insFs

c.2496dupT

1 paper

NM_001081.4

p.F832delFs

c.2496delA

1 paper

NM_001081.4

p.P833fs

c.2497_2498fs

2 papers

NM_001081.4

p.P837fs

c.2509_2510fs

1 paper

NM_001081.4

p.E820D

c.2460A>T

1 paper

NM_001081.4

p.G838E

c.2513G>A

2 papers

NM_001081.4

p.G818R

c.2452G>C

2 papers

NM_001081.4

p.G818R

c.2452G>A

1 paper

NM_001081.4

p.A816Splc

c.2447-1G>T