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.L262L

c.784C>T

Surrounding Variants

1 paper

NM_001081.4

p.L262delFs

c.786delC

3 papers

NM_001081.4

p.A259G

c.776C>G

1 paper

NM_001081.4

p.E266K

c.796G>A

1 paper

NM_001081.4

p.P258S

c.772C>T

1 paper

NM_001081.4

p.S254P

c.760T>C

1 paper

NM_001081.4

p.Q270_P271insA

c.808_812ins3

11 papers

NM_001081.4

p.F253S

c.758T>C

1 paper

NM_001081.4

p.W251*

c.753G>A

1 paper

NM_001081.4

p.W251*

c.752G>A

1 paper

NM_001081.4

p.L277I

c.829C>A

1 paper

NM_001081.4

p.V246A

c.737T>C

1 paper

NM_001081.4

p.V278A

c.833T>C