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.E117K

c.349G>A

Surrounding Variants

1 paper

NM_031220.4

p.S116R

c.348C>G

1 paper

NM_031220.4

p.S116R

c.348C>A

1 paper

NM_031220.4

p.S116R

c.346A>C

1 paper

NM_031220.4

p.I112M

c.336C>G

1 paper

NM_031220.4

p.A106_E111del6

c.316_332del18

1 paper

NM_031220.4

p.F104S

c.311T>C

1 paper

NM_031220.4

p.R92*

c.274C>T

1 paper

NM_031220.4

p.G119S

c.355G>A

1 paper

NM_031220.4

p.H128Y

c.382C>T

1 paper

NM_031220.4

p.T142T

c.426G>T

1 paper

NM_031220.4

p.A144T

c.430G>A

2 papers

NM_031220.4

p.G145R

c.433G>A