Varaico: Literature-Extracted Genetic Variants

A2ML1

182 papers

RefSeq Summary

This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been ...

Pfam Domains

MG2aa 121–212UCSCMG2 domain

MG3aa 213–304UCSCMacroglobulin domain MG3

MG4aa 342–439UCSCMacroglobulin domain MG4

Gene Aliases

HGNC Name

alpha-2-macroglobulin like 1

HGNC Previous Symbol

CPAMD9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_144670.6

p.S1354Splc

c.4061+1G>A

Surrounding Variants

2 papers

NM_144670.6

p.S1354Splc

c.4061+1G>C

1 paper

NM_144670.6

p.Q1340Q

c.4020A>G

1 paper

NM_144670.6

p.G1334E

c.4001G>A

1 paper

NM_144670.6

p.E1332*

c.3994G>T

2 papers

NM_144670.6

p.N1323H

c.3967A>C

1 paper

NM_144670.6

p.P1320L

c.3959C>T

1 paper

NM_144670.6

p.P1320S

c.3958C>T

1 paper

NM_144670.6

p.T1312M

c.3935C>T

1 paper

NM_144670.6

p.V1356_G1357ins4

c.4066_4070ins12

2 papers

NM_144670.6

p.R1359H

c.4076G>A

2 papers

NM_144670.6

p.G1374W

c.4120G>T

1 paper

NM_144670.6

p.S1376I

c.4127G>T