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.A437T

c.1309G>A

Surrounding Variants

1 paper

NM_031220.4

p.Q429K

c.1285C>A

1 paper

NM_031220.4

p.C427Y

c.1280G>A

1 paper

NM_031220.4

p.S495N

c.1484G>A

1 paper

NM_031220.4

p.P496L

c.1487C>T

1 paper

NM_031220.4

p.L498_L499del2

c.1492_1496del6

1 paper

NM_031220.4

p.R516W

c.1546C>T

2 papers

NM_031220.4

p.A535V

c.1604C>T

1 paper

NM_031220.4

p.A409V

c.1226C>T

1 paper

NM_031220.4

p.S402S

c.1206G>A

1 paper

NM_031220.4

p.G401S

c.1201G>A

1 paper

NM_031220.4

p.D396N

c.1186G>A

1 paper

NM_031220.4

p.F390C

c.1169T>G