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.E929*

c.2785G>T

Surrounding Variants

1 paper

NM_004910.3

p.E929K

c.2785G>A

1 paper

NM_004910.3

p.G930C

c.2788G>T

1 paper

NM_004910.3

p.A922S

c.2764G>T

1 paper

NM_004910.3

p.V946I

c.2836G>A

1 paper

NM_004910.3

p.D955H

c.2863G>C

1 paper

NM_004910.3

p.M959I

c.2877G>T

1 paper

NM_004910.3

p.M959I

c.2877G>C

1 paper

NM_004910.3

p.M959I

c.2877G>A

1 paper

NM_004910.3

p.A990V

c.2969C>T

1 paper

NM_004910.3

p.M1000L

c.2998A>T

1 paper

NM_004910.3

p.M1000L

c.2998A>C

1 paper

NM_004910.3

p.S1034S

c.3102C>T