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.L719P

c.2156T>C

Surrounding Variants

1 paper

NM_001081.4

p.E718V

c.2153A>T

1 paper

NM_001081.4

p.E718*

c.2152G>T

1 paper

NM_001081.4

p.P715L

c.2144C>T

1 paper

NM_001081.4

p.D714insFs

c.2141_2142insA

1 paper

NM_001081.4

p.T713M

c.2138C>T

1 paper

NM_001081.4

p.F728L

c.2182T>C

1 paper

NM_001081.4

p.F728L

c.2184C>G

1 paper

NM_001081.4

p.F728L

c.2184C>A

1 paper

NM_001081.4

p.T729_H730insTT

c.2185_2189ins6

1 paper

NM_001081.4

p.F728delFs

c.2184delG

3 papers

NM_001081.4

p.H730Y

c.2188C>T

1 paper

NM_001081.4

p.V753_E754del1

c.2259_2261delTCC