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.P374P

c.1122T>A

Surrounding Variants

1 paper

NM_001081.4

p.G371R

c.1111G>C

1 paper

NM_001081.4

p.P380L

c.1139C>T

1 paper

NM_001081.4

p.G381insFs

c.1141_1142insTC

1 paper

NM_001081.4

p.G388insFs

c.1163_1164insA

12 papers

NM_001081.4

p.P389T

c.1165C>A

1 paper

NM_001081.4

p.G391*

c.1171G>T

1 paper

NM_001081.4

p.C392insFs

c.1175_1176insT

1 paper

NM_001081.4

p.C392_V393insFs

c.1176_1177insT

1 paper

NM_001081.4

p.S396_N397insA

c.1186_1190ins3

1 paper

NM_001081.4

p.G407R

c.1219G>C

1 paper

NM_001081.4

p.G407R

c.1219G>A

4 papers

NM_001081.4

p.I410_D411Splc

c.1230+1G>A