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.G76_E77del1

c.227_229delCTC

Surrounding Variants

6 papers

NM_031220.4

p.A80T

c.238G>A

1 paper

NM_031220.4

p.P81P

c.243G>A

2 papers

NM_031220.4

p.E89K

c.265G>A

1 paper

NM_031220.4

p.R92*

c.274C>T

1 paper

NM_031220.4

p.R92Splc

c.274+1G>A