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.A144T

c.430G>A

Surrounding Variants

2 papers

NM_031220.4

p.G145R

c.433G>A

1 paper

NM_031220.4

p.T142T

c.426G>T

1 paper

NM_031220.4

p.S159S

c.477C>T

1 paper

NM_031220.4

p.V160M

c.478G>A

1 paper

NM_031220.4

p.H128Y

c.382C>T

1 paper

NM_031220.4

p.E162K

c.484G>A

1 paper

NM_031220.4

p.T165Fs

c.495delinsTTTFs

1 paper

NM_031220.4

p.H168R

c.503A>G

1 paper

NM_031220.4

p.G119S

c.355G>A

4 papers

NM_031220.4

p.V181I

c.541G>A

1 paper

NM_031220.4

p.A190T

c.568G>A

1 paper

NM_031220.4

p.E117K

c.349G>A