Varaico: Literature-Extracted Genetic Variants

A2M

309 papers

RefSeq Summary

The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagena...

Pfam Domains

MG2aa 128–221UCSCMG2 domain

MG3aa 223–313UCSCMacroglobulin domain MG3

Gene Aliases

HGNC Name

alpha-2-macroglobulin

HGNC Alias Symbols

FWP007; S863-7; CPAMD5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

35 papers

NM_000014.6

p.I1000V

c.2998A>G

Surrounding Variants

1 paper

NM_000014.6

p.E999_I1000insA

c.2995_2999ins3

1 paper

NM_000014.6

p.P998del1

c.2992_2993delTGG

1 paper

NM_000014.6

p.I1000_K1001delFs

c.3000_3001delTG

1 paper

NM_000014.6

p.G1011C

c.3031G>T

1 paper

NM_000014.6

p.C972Y

c.2915G>A

1 paper

NM_000014.6

p.M959L

c.2875A>T

1 paper

NM_000014.6

p.M959L

c.2875A>C

1 paper

NM_000014.6

p.I954V

c.2860A>G

2 papers

NM_000014.6

p.R1031Q

c.3092G>A

1 paper

NM_000014.6

p.R945Q

c.2834G>A

1 paper

NM_000014.6

p.R945*

c.2833C>T

2 papers

NM_000014.6

p.E929*

c.2785G>T