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.W2868C

c.8604G>C

Surrounding Variants

1 paper

NM_001081.4

p.W2868C

c.8604G>T

1 paper

NM_001081.4

p.W2868L

c.8603G>T

1 paper

NM_001081.4

p.V2867L

c.8599G>T

1 paper

NM_001081.4

p.V2867L

c.8599G>C

1 paper

NM_001081.4

p.D2875G

c.8624A>G

1 paper

NM_001081.4

p.L2879V

c.8635C>G

5 papers

NM_001081.4

p.L2879I

c.8635C>A

1 paper

NM_001081.4

p.P2888T

c.8662C>A

3 papers

NM_001081.4

p.V2891I

c.8671G>A

2 papers

NM_001081.4

p.Q2903*

c.8707C>T

1 paper

NM_001081.4

p.A2914S

c.8740G>T

9 papers

NM_001081.4

p.A2914V

c.8741C>T