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

9 papers

NM_001081.4

p.L2153F

c.6459G>C

Surrounding Variants

8 papers

NM_001081.4

p.L2153F

c.6459G>T

1 paper

NM_001081.4

p.E2135V

c.6404A>T

1 paper

NM_001081.4

p.L2123V

c.6367C>G

1 paper

NM_001081.4

p.W2120*

c.6360G>A

1 paper

NM_001081.4

p.W2120*

c.6359G>A

1 paper

NM_001081.4

p.E2110V

c.6329A>T

1 paper

NM_001081.4

p.P2109R

c.6326C>G

1 paper

NM_001081.4

p.Y2108C

c.6323A>G

9 papers

NM_001081.4

p.N2157D

c.6469A>G

1 paper

NM_001081.4

p.P2159T

c.6475C>A

1 paper

NM_001081.4

p.D2160G

c.6479A>G

1 paper

NM_001081.4

p.G2093A

c.6278G>C