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

3 papers

NM_001081.4

p.D872fs

c.2614_2615fs

Surrounding Variants

3 papers

NM_001081.4

p.D872delFs

c.2614_2615delTC

1 paper

NM_001081.4

p.S865I

c.2594G>T

9 papers

NM_001081.4

p.S865N

c.2594G>A

1 paper

NM_001081.4

p.I846V

c.2536A>G

1 paper

NM_001081.4

p.P837_R843delFs

c.2511_2529del19

1 paper

NM_001081.4

p.G838E

c.2513G>A

2 papers

NM_001081.4

p.P837fs

c.2509_2510fs

1 paper

NM_001081.4

p.P833fs

c.2497_2498fs

1 paper

NM_001081.4

p.F832insFs

c.2496dupT

1 paper

NM_001081.4

p.F832delFs

c.2496delA

1 paper

NM_001081.4

p.P830L

c.2489C>T

1 paper

NM_001081.4

p.S829S

c.2487G>A