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

1 paper

NM_153487.4

p.Y519C

c.1556A>G

Surrounding Variants

1 paper

NM_153487.4

p.Q515*

c.1543C>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.G510R

c.1528G>C

1 paper

NM_153487.4

p.G510R

c.1528G>A

1 paper

NM_153487.4

p.S509S

c.1527C>T

1 paper

NM_153487.4

p.P471L

c.1412C>T

1 paper

NM_153487.4

p.E464D

c.1392G>T

1 paper

NM_153487.4

p.E464D

c.1392G>C

1 paper

NM_153487.4

p.P458S

c.1372C>T

1 paper

NM_153487.4

p.E455fs

c.1363_1364fs

1 paper

NM_153487.4

p.R554W

c.1660C>T