Varaico: Literature-Extracted Genetic Variants

APOH

136 papers

RefSeq Summary

Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, ...

Pfam Domains

Sushiaa 23–79UCSCSushi repeat (SCR repeat)

Sushiaa 84–137UCSCSushi repeat (SCR repeat)

Sushiaa 142–200UCSCSushi repeat (SCR repeat)

Sushiaa 205–260UCSCSushi repeat (SCR repeat)

Sushi_2aa 261–345UCSCBeta-2-glycoprotein-1 fifth domain

Gene Aliases

HGNC Name

apolipoprotein H

HGNC Previous Symbol

B2G1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000042.3

p.F150L

c.450T>A

Surrounding Variants

2 papers

NM_000042.3

p.F150L

c.450T>G

2 papers

NM_000042.3

p.F150L

c.448T>C

1 paper

NM_000042.3

p.L153P

c.458T>C

1 paper

NM_000042.3

p.P148T

c.442C>A

1 paper

NM_000042.3

p.R154C

c.460C>T

5 papers

NM_000042.3

p.R154H

c.461G>A

1 paper

NM_000042.3

p.P145L

c.434C>T

1 paper

NM_000042.3

p.P144R

c.431C>G

5 papers

NM_000042.3

p.I141T

c.422T>C

1 paper

NM_000042.3

p.A160D

c.479C>A

1 paper

NM_000042.3

p.I141V

c.421A>G

1 paper

NM_000042.3

p.P139L

c.416C>T