Varaico: Literature-Extracted Genetic Variants

PITPNM2

71 papers

RefSeq Summary

PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al.,...

Pfam Domains

IP_transaa 1–251UCSCPhosphatidylinositol transfer protein

DDHDaa 715–962UCSCDDHD domain

PITM1-3aa 1003–1100UCSCPITM 1-3, beta-sandwich domain

LNS2_PITM1-3aa 1108–1231UCSCPITM 1-3, LNS2 domain

Gene Aliases

HGNC Name

phosphatidylinositol transfer protein membrane associated 2

HGNC Alias Symbols

RDGBA2; RDGB2; NIR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020845.3

p.Q594*

c.1780C>T

Surrounding Variants

1 paper

NM_020845.3

p.V590V

c.1770G>A

1 paper

NM_020845.3

p.V590M

c.1768G>A

1 paper

NM_020845.3

p.R534*

c.1600C>T

1 paper

NM_020845.3

p.P515H

c.1544C>A

1 paper

NM_020845.3

p.P510H

c.1529C>A

1 paper

NM_020845.3

p.G617S

c.1849G>A

1 paper

NM_020845.3

p.S483C

c.1448C>G

1 paper

NM_020845.3

p.R639L

c.1916G>T

2 papers

NM_020845.3

p.V462M

c.1384G>A

1 paper

NM_020845.3

p.R650C

c.1948C>T

1 paper

NM_020845.3

p.N652N

c.1956C>T

1 paper

NM_020845.3

p.G440R

c.1318G>C