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

Selected Variant

1 paper

NM_004910.3

p.F350L

c.1050C>G

Surrounding Variants

1 paper

NM_004910.3

p.F350L

c.1050C>A

1 paper

NM_004910.3

p.F350L

c.1048T>C

1 paper

NM_004910.3

p.S342P

c.1024T>C

1 paper

NM_004910.3

p.E387_G388insFs

c.1161_1162ins23

2 papers

NM_004910.3

p.R314H

c.941G>A

2 papers

NM_004910.3

p.D302N

c.904G>A

1 paper

NM_004910.3

p.T285P

c.853A>C

1 paper

NM_004910.3

p.R279W

c.835C>T

1 paper

NM_004910.3

p.T248N

c.743C>A

1 paper

NM_004910.3

p.E247D

c.741G>T

1 paper

NM_004910.3

p.E247D

c.741G>C

1 paper

NM_004910.3

p.E246Q

c.736G>C