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.S682R

c.2046C>A

Surrounding Variants

1 paper

NM_004910.3

p.S682R

c.2046C>G

1 paper

NM_004910.3

p.S682R

c.2044A>C

1 paper

NM_004910.3

p.R707H

c.2120G>A

1 paper

NM_004910.3

p.S656T

c.1966T>A

1 paper

NM_004910.3

p.S644F

c.1931C>T

1 paper

NM_004910.3

p.E642A

c.1925A>C

1 paper

NM_004910.3

p.D635N

c.1903G>A

1 paper

NM_004910.3

p.I632V

c.1894A>G

1 paper

NM_004910.3

p.L610L

c.1830G>A

1 paper

NM_004910.3

p.D608N

c.1822G>A

1 paper

NM_004910.3

p.R607W

c.1819C>T

1 paper

NM_004910.3

p.E602Q

c.1804G>C