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.N253S

c.758A>G

Surrounding Variants

1 paper

NM_153487.4

p.E256*

c.766G>T

1 paper

NM_153487.4

p.E248K

c.742G>A

1 paper

NM_153487.4

p.N247N

c.741C>T

1 paper

NM_153487.4

p.L244V

c.730C>G

1 paper

NM_153487.4

p.L282P

c.845T>C

2 papers

NM_153487.4

p.T236I

c.707C>T

1 paper

NM_153487.4

p.K202E

c.604A>G

1 paper

NM_153487.4

p.S173S

c.519C>A

1 paper

NM_153487.4

p.F167F

c.501C>T

1 paper

NM_153487.4

p.T139S

c.415A>T

1 paper

NM_153487.4

p.T135A

c.403A>G

1 paper

NM_153487.4

p.V340M

c.1018G>A