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.R1275R

c.3823C>A

Surrounding Variants

1 paper

NM_001081.4

p.R1268C

c.3802C>T

1 paper

NM_001081.4

p.Q1266R

c.3797A>G

1 paper

NM_001081.4

p.T1261fs

c.3781_3782fs

1 paper

NM_001081.4

p.T1261insFs

c.3781_3782insG

1 paper

NM_001081.4

p.R1260_T1261insFs

c.3780_3781ins28

1 paper

NM_001081.4

p.S1254C

c.3760A>T

3 papers

NM_001081.4

p.S1250F

c.3749C>T

1 paper

NM_001081.4

p.K1244I

c.3731A>T

1 paper

NM_001081.4

p.L1235M

c.3703C>A

1 paper

NM_001081.4

p.P1229delFs

c.3685_3686delGG

1 paper

NM_001081.4

p.P1229fs

c.3685_3686fs

2 papers

NM_001081.4

p.T1277Splc

c.3829+233C>T