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.V47A

c.140T>C

Surrounding Variants

1 paper

NM_153487.4

p.G53V

c.158G>T

3 papers

NM_153487.4

p.L61P

c.182T>C

1 paper

NM_153487.4

p.R67Q

c.200G>A

1 paper

NM_153487.4

p.S80L

c.239C>T

1 paper

NM_153487.4

p.K82Q

c.244A>C

1 paper

NM_153487.4

p.R97H

c.290G>A

1 paper

NM_153487.4

p.G103G

c.309C>T

1 paper

NM_153487.4

p.V116M

c.346G>A

1 paper

NM_153487.4

p.R123H

c.368G>A

1 paper

NM_153487.4

p.T135A

c.403A>G

1 paper

NM_153487.4

p.T139S

c.415A>T

1 paper

NM_153487.4

p.F167F

c.501C>T