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

1–12 of 129 variants

17 papers

NM_031220.4

p.Q626H

c.1878G>C

16 papers

NM_031220.4

p.Q626H

c.1878G>T

6 papers

NM_031220.4

p.A80T

c.238G>A

4 papers

NM_031220.4

p.V181I

c.541G>A

4 papers

NM_031220.4

p.T563M

c.1688C>T

2 papers

NM_031220.4

p.P17S

c.49C>T

2 papers

NM_031220.4

p.E89K

c.265G>A

2 papers

NM_031220.4

p.G145R

c.433G>A

2 papers

NM_031220.4

p.P339R

c.1016C>G

2 papers

NM_031220.4

p.A535V

c.1604C>T

2 papers

NM_031220.4

p.R637Q

c.1910G>A

2 papers

NM_031220.4

p.M726R

c.2177T>G