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

1–12 of 867 variants

24 papers

NM_001081.4

p.P1297L

c.3890C>T

19 papers

NM_001081.4

p.I2984V

c.8950A>G

12 papers

NM_001081.4

p.P389T

c.1165C>A

12 papers

NM_001081.4

p.A1690V

c.5069C>T

11 papers

NM_001081.4

p.F253S

c.758T>C

9 papers

NM_001081.4

p.S865N

c.2594G>A

9 papers

NM_001081.4

p.L2153F

c.6459G>C

9 papers

NM_001081.4

p.N2157D

c.6469A>G

9 papers

NM_001081.4

p.A2914V

c.8741C>T

9 papers

NM_001081.4

p.Y3018S

c.9053A>C

8 papers

NM_001081.4

p.P337L

c.1010C>T

8 papers

NM_001081.4

p.R651*

c.1951C>T