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.E1219*

c.3655G>T

Surrounding Variants

1 paper

NM_004910.3

p.R1218H

c.3653G>A

1 paper

NM_004910.3

p.S1190_S1205insFs

c.3569_3614dup46

1 paper

NM_004910.3

p.S1205fs

c.3613_3614fs

1 paper

NM_004910.3

p.P1197S

c.3589C>T

1 paper

NM_004910.3

p.P1182P

c.3546C>T

1 paper

NM_004910.3

p.R1147_R1150insFs

c.3439_3448dup10

1 paper

NM_004910.3

p.R1150fs

c.3448_3449fs

1 paper

NM_004910.3

p.R1150W

c.3448C>T

1 paper

NM_004910.3

p.Y1132*

c.3396C>G

1 paper

NM_004910.3

p.Y1132*

c.3396C>A

1 paper

NM_004910.3

p.V1112V

c.3336G>A

1 paper

NM_004910.3

p.F1107S

c.3320T>C