Varaico: Literature-Extracted Genetic Variants

MDGA1

70 papers

RefSeq Summary

This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhes...

Pfam Domains

Ig_3aa 40–112UCSCImmunoglobulin domain

Ig_3aa 131–217UCSCImmunoglobulin domain

Ig_3aa 239–312UCSCImmunoglobulin domain

Ig_3aa 335–418UCSCImmunoglobulin domain

Ig_3aa 439–517UCSCImmunoglobulin domain

I-setaa 539–631UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

MAM domain containing glycosylphosphatidylinositol anchor 1

HGNC Alias Symbols

GPIM; MAMDC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_153487.4

p.P589L

c.1766C>T

Surrounding Variants

1 paper

NM_153487.4

p.P589T

c.1765C>A

1 paper

NM_153487.4

p.L582P

c.1745T>C

1 paper

NM_153487.4

p.A598V

c.1793C>T

1 paper

NM_153487.4

p.R601H

c.1802G>A

1 paper

NM_153487.4

p.E614D

c.1842G>T

1 paper

NM_153487.4

p.E614D

c.1842G>C

1 paper

NM_153487.4

p.S561L

c.1682C>T

1 paper

NM_153487.4

p.R554P

c.1661G>C

1 paper

NM_153487.4

p.R554W

c.1660C>T

1 paper

NM_153487.4

p.V524L

c.1570G>T

1 paper

NM_153487.4

p.V524L

c.1570G>C

1 paper

NM_153487.4

p.Y519C

c.1556A>G