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

1–12 of 73 variants

4 papers

NM_153487.4

p.V909I

c.2725G>A

3 papers

NM_153487.4

p.L61P

c.182T>C

3 papers

NM_153487.4

p.P935S

c.2803C>T

2 papers

NM_153487.4

p.T236I

c.707C>T

2 papers

NM_153487.4

p.P589L

c.1766C>T

2 papers

NM_153487.4

p.E718D

c.2154G>T

2 papers

NM_153487.4

p.E718D

c.2154G>C

2 papers

NM_153487.4

p.E756Q

c.2266G>C

1 paper

NM_153487.4

p.V47A

c.140T>C

1 paper

NM_153487.4

p.G53V

c.158G>T

1 paper

NM_153487.4

p.R67Q

c.200G>A

1 paper

NM_153487.4

p.S80L

c.239C>T