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.N1658delFs

c.4973delT

Surrounding Variants

3 papers

NM_001081.4

p.N1658fs

c.4972_4973fs

1 paper

NM_001081.4

p.T1665I

c.4994C>T

1 paper

NM_001081.4

p.R1671G

c.5011A>G

1 paper

NM_001081.4

p.F1679L

c.5035T>C

1 paper

NM_001081.4

p.F1679L

c.5037T>G

1 paper

NM_001081.4

p.F1679L

c.5037T>A

1 paper

NM_001081.4

p.D1689G

c.5066A>G

1 paper

NM_001081.4

p.D1689D

c.5067C>T

12 papers

NM_001081.4

p.A1690V

c.5069C>T

1 paper

NM_001081.4

p.G1694Splc

c.5080+17T>C

1 paper

NM_001081.4

p.D1700N

c.5098G>A

1 paper

NM_001081.4

p.S1709C

c.5125A>T