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.R955T

c.2864G>C

Surrounding Variants

3 papers

NM_153487.4

p.P935S

c.2803C>T

1 paper

NM_153487.4

p.R918Q

c.2753G>A

1 paper

NM_153487.4

p.R918W

c.2752C>T

4 papers

NM_153487.4

p.V909I

c.2725G>A

1 paper

NM_153487.4

p.R896*

c.2686C>T

1 paper

NM_153487.4

p.R896R

c.2686C>A

1 paper

NM_153487.4

p.Q889_I890Splc

c.2667+8C>T

1 paper

NM_153487.4

p.P884P

c.2652C>T

1 paper

NM_153487.4

p.K871M

c.2612A>T

1 paper

NM_153487.4

p.G815E

c.2444G>A

1 paper

NM_153487.4

p.R812W

c.2434C>T

1 paper

NM_153487.4

p.R775Q

c.2324G>A