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.S290N

c.869G>A

Surrounding Variants

1 paper

NM_031220.4

p.T299insFs

c.896_897insT

1 paper

NM_031220.4

p.Q300_D301Splc

c.900+60C>T

1 paper

NM_031220.4

p.I254L

c.760A>C

1 paper

NM_031220.4

p.A232_N241delFs

c.694_722del29

1 paper

NM_031220.4

p.A240T

c.718G>A

1 paper

NM_031220.4

p.T235T

c.705C>T

1 paper

NM_031220.4

p.V233V

c.699C>T

1 paper

NM_031220.4

p.D231fs

c.691_692fs

1 paper

NM_031220.4

p.P227_Y229del3

c.679_686del9

2 papers

NM_001165966.2

p.Y193*

c.579C>G

NM_031220.4

p.Y229*

c.687C>G

2 papers

NM_001165966.2

p.Y193*

c.579C>A

NM_031220.4

p.Y229*

c.687C>A

1 paper

NM_031220.4

p.Q228K

c.682C>A