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

24 papers

NM_001081.4

p.P1297L

c.3890C>T

Surrounding Variants

1 paper

NM_001081.4

p.N1285_P1299del15

c.3853_3896del45

3 papers

NM_001081.4

p.N1303H

c.3907A>C

1 paper

NM_001081.4

p.G1289V

c.3866G>T

1 paper

NM_001081.4

p.V1284F

c.3850G>T

1 paper

NM_001081.4

p.N1280D

c.3838A>G

1 paper

NM_001081.4

p.D1326E

c.3978C>G

1 paper

NM_001081.4

p.D1326E

c.3978C>A

3 papers

NM_001081.4

p.C1333*

c.3999C>A

1 paper

NM_001081.4

p.T1335K

c.4004C>A

2 papers

NM_001081.4

p.E1339E

c.4017G>A

1 paper

NM_001081.4

p.E1339_L1340Splc

c.4017+1G>A

2 papers

NM_001081.4

p.T1277Splc

c.3829+233C>T