Varaico: Literature-Extracted Genetic Variants

CNNM1

71 papers

RefSeq Summary

This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2...

Pfam Domains

Ig_CNNM4_Naa 41–210UCSCMetal transporter CNNM4-like, immunoglobulin-like domain

CNNMaa 227–413UCSCCyclin M transmembrane N-terminal domain

CBSaa 498–562UCSCCBS domain

CNBH_CNNM2_Caa 576–817UCSCMetal transporter CNNM2-like, C-terminal CNBH domain

Gene Aliases

HGNC Name

cyclin and CBS domain divalent metal cation transport mediator 1

HGNC Previous Symbol

ACDP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020348.3

p.V335I

c.1003G>A

Surrounding Variants

1 paper

NM_020348.3

p.A339V

c.1016C>T

1 paper

NM_020348.3

p.V330_C331delFs

c.989_992del4

1 paper

NM_020348.3

p.A328A

c.984G>A

1 paper

NM_020348.3

p.P324L

c.971C>T

1 paper

NM_020348.3

p.D315N

c.943G>A

1 paper

NM_020348.3

p.A355T

c.1063G>A

1 paper

NM_020348.3

p.V359A

c.1076T>C

1 paper

NM_020348.3

p.G308D

c.923G>A

1 paper

NM_020348.3

p.L361L

c.1083G>A

1 paper

NM_020348.3

p.G308S

c.922G>A

1 paper

NM_020348.3

p.G299insFs

c.896_897insT

1 paper

NM_020348.3

p.S389R

c.1165A>C