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.A814T

c.2440G>A

Surrounding Variants

1 paper

NM_004910.3

p.P813L

c.2438C>T

1 paper

NM_004910.3

p.P813R

c.2438C>G

1 paper

NM_004910.3

p.P812L

c.2435C>T

1 paper

NM_004910.3

p.S799T

c.2396G>C

1 paper

NM_004910.3

p.S799G

c.2395A>G

2 papers

NM_004910.3

p.R883Q

c.2648G>A

1 paper

NM_004910.3

p.D734E

c.2202C>G

1 paper

NM_004910.3

p.D734E

c.2202C>A

1 paper

NM_004910.3

p.D734N

c.2200G>A

1 paper

NM_004910.3

p.A733_D734delins

c.2199_2200delinsCA

1 paper

NM_004910.3

p.A732V

c.2195C>T

1 paper

NM_004910.3

p.N728N

c.2184C>T