Varaico: Literature-Extracted Genetic Variants

PITPNM1

87 papers

RefSeq Summary

PITPNM1 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 1–250UCSCPhosphatidylinositol transfer protein

DDHDaa 686–829UCSCDDHD domain

DDHDaa 803–879UCSCDDHD domain

PITM1-3aa 918–1015UCSCPITM 1-3, beta-sandwich domain

LNS2_PITM1-3aa 1023–1146UCSCPITM 1-3, LNS2 domain

Gene Aliases

HGNC Name

phosphatidylinositol transfer protein membrane associated 1

HGNC Alias Symbols

DRES9; NIR2; RDGB1; RDGBA1; Rd9; RDGB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 107 variants

3 papers

NM_004910.3

p.R217W

c.649C>T

2 papers

NM_004910.3

p.R160W

c.478C>T

2 papers

NM_004910.3

p.D302N

c.904G>A

2 papers

NM_004910.3

p.R314H

c.941G>A

2 papers

NM_004910.3

p.S589G

c.1765A>G

2 papers

NM_004910.3

p.R883Q

c.2648G>A

1 paper

NM_004910.3

p.L2H

c.5T>A

1 paper

NM_004910.3

p.E5fs

c.13_14fs

1 paper

NM_004910.3

p.L14Q

c.41T>A

1 paper

NM_004910.3

p.D15E

c.45C>G

1 paper

NM_004910.3

p.D15E

c.45C>A

1 paper

NM_004910.3

p.S38S

c.114C>T