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.S2989R

c.8967C>G

Surrounding Variants

1 paper

NM_001081.4

p.S2989R

c.8967C>A

2 papers

NM_001081.4

p.V2990I

c.8968G>A

1 paper

NM_001081.4

p.V2990A

c.8969T>C

1 paper

NM_001081.4

p.S2989R

c.8965A>C

19 papers

NM_001081.4

p.I2984V

c.8950A>G

1 paper

NM_001081.4

p.D2980N

c.8938G>A

1 paper

NM_001081.4

p.C2977S

c.8930G>C

1 paper

NM_001081.4

p.C2977S

c.8929T>A

6 papers

NM_001081.4

p.E3002G

c.9005A>G

3 papers

NM_001081.4

p.T2974M

c.8921C>T

9 papers

NM_001081.4

p.Y3018S

c.9053A>C

1 paper

NM_001081.4

p.Y3018delFs

c.9054delG