Varaico: Literature-Extracted Genetic Variants

PITPNM3

125 papers

RefSeq Summary

This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and ...

Pfam Domains

DDHDaa 390–593UCSCDDHD domain

PITM1-3aa 634–731UCSCPITM 1-3, beta-sandwich domain

LNS2_PITM1-3aa 739–862UCSCPITM 1-3, LNS2 domain

Gene Aliases

HGNC Name

PITPNM family member 3

HGNC Previous Symbol

CORD5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031220.4

p.E34K

c.100G>A

Surrounding Variants

1 paper

NM_031220.4

p.F35I

c.103T>A

1 paper

NM_031220.4

p.D33N

c.97G>A

1 paper

NM_031220.4

p.D37G

c.110A>G

1 paper

NM_031220.4

p.D26E

c.78C>A

1 paper

NM_031220.4

p.R21L

c.62G>T

2 papers

NM_031220.4

p.P17S

c.49C>T