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.R465C

c.1393C>T

Surrounding Variants

1 paper

NM_004910.3

p.V463I

c.1387G>A

1 paper

NM_004910.3

p.A471A

c.1413C>G

1 paper

NM_004910.3

p.S441L

c.1322C>T

1 paper

NM_004910.3

p.D414H

c.1240G>C

1 paper

NM_004910.3

p.E411_G412Splc

c.1234-2A>T

1 paper

NM_004910.3

p.S507Y

c.1520C>A

1 paper

NM_004910.3

p.R538H

c.1613G>A

1 paper

NM_004910.3

p.C576R

c.1726T>C

1 paper

NM_004910.3

p.T583T

c.1749C>T

2 papers

NM_004910.3

p.S589G

c.1765A>G

1 paper

NM_004910.3

p.M594_N595Splc

c.1783-8C>G

1 paper

NM_004910.3

p.E602Q

c.1804G>C