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.S38S

c.114C>T

Surrounding Variants

1 paper

NM_004910.3

p.G39S

c.115G>A

1 paper

NM_004910.3

p.V40M

c.118G>A

1 paper

NM_004910.3

p.P52P

c.156C>T

1 paper

NM_004910.3

p.A81S

c.241G>T

1 paper

NM_004910.3

p.E105*

c.313G>T

1 paper

NM_004910.3

p.K106fs

c.316_317fs

1 paper

NM_004910.3

p.K106delFs

c.318delT

1 paper

NM_004910.3

p.P117ins14

c.350_351ins42

1 paper

NM_004910.3

p.Q122*

c.364C>T

1 paper

NM_004910.3

p.E132K

c.394G>A

2 papers

NM_004910.3

p.R160W

c.478C>T

1 paper

NM_004910.3

p.R169Q

c.506G>A