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

17 papers

NM_031220.4

p.Q626H

c.1878G>C

Surrounding Variants

16 papers

NM_031220.4

p.Q626H

c.1878G>T

1 paper

NM_031220.4

p.S612G

c.1834A>G

1 paper

NM_031220.4

p.R605C

c.1813C>T

1 paper

NM_031220.4

p.S597G

c.1789A>G

1 paper

NM_031220.4

p.V584L

c.1750G>T

1 paper

NM_031220.4

p.V584L

c.1750G>C

4 papers

NM_031220.4

p.T563M

c.1688C>T

1 paper

NM_031220.4

p.I542Splc

c.1625-9G>A

2 papers

NM_031220.4

p.A535V

c.1604C>T

1 paper

NM_031220.4

p.R516W

c.1546C>T

1 paper

NM_031220.4

p.L498_L499del2

c.1492_1496del6

1 paper

NM_031220.4

p.P496L

c.1487C>T