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

6 papers

NM_001081.4

p.E304K

c.910G>A

Surrounding Variants

1 paper

NM_001081.4

p.E304*

c.910G>T

1 paper

NM_001081.4

p.D305N

c.913G>A

1 paper

NM_001081.4

p.C309insFs

c.926_927dupGT

3 papers

NM_001081.4

p.Q297*

c.889C>T

1 paper

NM_001081.4

p.W296delFs

c.888delC

2 papers

NM_001081.4

p.G295Splc

c.884-1G>A

1 paper

NM_001081.4

p.G295Splc

c.884-2A>T

1 paper

NM_001081.4

p.S317F

c.950C>T

1 paper

NM_001081.4

p.V318E

c.953T>A

1 paper

NM_001081.4

p.P320L

c.959C>T

1 paper

NM_001081.4

p.V322F

c.964G>T

1 paper

NM_001081.4

p.V322I

c.964G>A