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.M656T

c.1967T>C

Surrounding Variants

1 paper

NM_031220.4

p.P648S

c.1942C>T

1 paper

NM_031220.4

p.G667E

c.2000G>A

2 papers

NM_031220.4

p.R637Q

c.1910G>A

1 paper

NM_031220.4

p.T633A

c.1897A>G

1 paper

NM_031220.4

p.D687H

c.2059G>C

1 paper

NM_031220.4

p.I690S

c.2069T>G

1 paper

NM_031220.4

p.N692S

c.2075A>G

1 paper

NM_031220.4

p.I697_Y699del3

c.2089_2096del9

1 paper

NM_031220.4

p.R703W

c.2107C>T

2 papers

NM_031220.4

p.M726R

c.2177T>G

1 paper

NM_031220.4

p.S727N

c.2180G>A

1 paper

NM_031220.4

p.L729fs

c.2185_2186fs