Varaico: Literature-Extracted Genetic Variants

APOB

2,105 papers

RefSeq Summary

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100:...

Pfam Domains

Vitellogenin_Naa 46–598UCSCLipoprotein amino terminal region

Vit_open_b-shtaa 632–937UCSCVitellinogen, open beta-sheet

DUF1081aa 960–1071UCSCDomain of Unknown Function (DUF1081)

ApoB100_Caa 4494–4550UCSCApolipoprotein B100 C terminal

Gene Aliases

HGNC Name

apolipoprotein B

HGNC Alias Symbol

ApoB-100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000384.3

p.Q96H

c.288G>T

Surrounding Variants

1 paper

NM_000384.3

p.Q96_C97insFs

c.288_289insC

3 papers

NM_000384.3

p.Q96H

c.288G>C

1 paper

NM_000384.3

p.Q96Q

c.288G>A

3 papers

NM_000384.3

p.C97G

c.289T>G

1 paper

NM_000384.3

p.Q96*

c.286C>T

1 paper

NM_000384.3

p.Q96K

c.286C>A

1 paper

NM_000384.3

p.C97C

c.291C>T

1 paper

NM_000384.3

p.C97W

c.291C>G

1 paper

NM_000384.3

p.C97*

c.291C>A

1 paper

NM_000384.3

p.T98P

c.292A>C

46 papers

NM_000384.3

p.T98I

c.293C>T

1 paper

NM_000384.3

p.T98S

c.293C>G