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.F1727L

c.5179T>C

Surrounding Variants

1 paper

NM_001081.4

p.T1732I

c.5195C>T

1 paper

NM_001081.4

p.S1718delFs

c.5153_5154delAG

1 paper

NM_001081.4

p.S1736L

c.5207C>T

1 paper

NM_001081.4

p.V1717I

c.5149G>A

1 paper

NM_001081.4

p.S1709R

c.5127C>G

1 paper

NM_001081.4

p.S1709R

c.5127C>A

1 paper

NM_001081.4

p.S1709C

c.5125A>T

1 paper

NM_001081.4

p.S1709R

c.5125A>C

1 paper

NM_001081.4

p.D1700N

c.5098G>A

1 paper

NM_001081.4

p.A1737S

c.5209G>T

1 paper

NM_001081.4

p.T1741M

c.5222C>T

1 paper

NM_001081.4

p.F1749_N1750insTT

c.5245_5249ins6