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.T752P

c.2254A>C

Surrounding Variants

2 papers

NM_153487.4

p.E756Q

c.2266G>C

1 paper

NM_153487.4

p.R775Q

c.2324G>A

1 paper

NM_153487.4

p.R812W

c.2434C>T

1 paper

NM_153487.4

p.G815E

c.2444G>A

2 papers

NM_153487.4

p.E718D

c.2154G>T

2 papers

NM_153487.4

p.E718D

c.2154G>C

1 paper

NM_153487.4

p.Y717S

c.2150A>C

1 paper

NM_153487.4

p.R697H

c.2090G>A

1 paper

NM_153487.4

p.A688V

c.2063C>T

1 paper

NM_153487.4

p.V659V

c.1977G>A

1 paper

NM_153487.4

p.R648C

c.1942C>T

1 paper

NM_153487.4

p.P637L

c.1910C>T