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.D2160G

c.6479A>G

Surrounding Variants

1 paper

NM_001081.4

p.P2159T

c.6475C>A

1 paper

NM_001081.4

p.C2162S

c.6485G>C

5 papers

NM_001081.4

p.C2162Y

c.6485G>A

9 papers

NM_001081.4

p.N2157D

c.6469A>G

1 paper

NM_001081.4

p.P2164S

c.6490C>T

1 paper

NM_001081.4

p.F2175C

c.6524T>G

1 paper

NM_001081.4

p.A2180T

c.6538G>A

1 paper

NM_001081.4

p.S2187L

c.6560C>T

1 paper

NM_001081.4

p.S2187*

c.6560C>A

1 paper

NM_001081.4

p.G2203G

c.6609G>T

2 papers

NM_001081.4

p.G2205R

c.6613G>C

2 papers

NM_001081.4

p.G2205R

c.6613G>A