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.L318H

c.953T>A

Surrounding Variants

1 paper

NM_031220.4

p.E307insFs

c.920dupA

1 paper

NM_031220.4

p.P303R

c.908C>G

1 paper

NM_031220.4

p.P337P

c.1011G>A

2 papers

NM_031220.4

p.P339R

c.1016C>G

1 paper

NM_031220.4

p.Q342P

c.1025A>C

1 paper

NM_031220.4

p.Q300_D301Splc

c.901-45G>A

1 paper

NM_031220.4

p.A352G

c.1055C>G

1 paper

NM_031220.4

p.S346_T354del9

c.1036_1061del27

1 paper

NM_031220.4

p.F359S

c.1076T>C

1 paper

NM_031220.4

p.Q300_D301Splc

c.900+60C>T

1 paper

NM_031220.4

p.T299insFs

c.896_897insT

1 paper

NM_031220.4

p.S290N

c.869G>A