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

1–12 of 96 variants

2 papers

NM_020845.3

p.V462M

c.1384G>A

2 papers

NM_020845.3

p.V690M

c.2068G>A

1 paper

NM_020845.3

p.R7Q

c.20G>A

1 paper

NM_020845.3

p.R18C

c.52C>T

1 paper

NM_020845.3

p.A20V

c.59C>T

1 paper

NM_020845.3

p.E36D

c.108A>T

1 paper

NM_020845.3

p.E36D

c.108A>C

1 paper

NM_020845.3

p.R46G

c.136C>G

1 paper

NM_020845.3

p.P47Q

c.140C>A

1 paper

NM_020845.3

p.H60Y

c.178C>T

1 paper

NM_020845.3

p.I76T

c.227T>C

1 paper

NM_020845.3

p.D146E

c.438C>G