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.G847R

c.2539G>C

Surrounding Variants

1 paper

NM_020348.3

p.G847R

c.2539G>A

1 paper

NM_020348.3

p.S850_S852delins

c.2549_2554delinsCCCCCG

1 paper

NM_020348.3

p.V887I

c.2659G>A

2 papers

NM_020348.3

p.A830T

c.2488G>A

1 paper

NM_020348.3

p.D796E

c.2388C>A

1 paper

NM_020348.3

p.D796E

c.2388C>G

1 paper

NM_020348.3

p.Q787*

c.2359C>T

1 paper

NM_020348.3

p.E896_C897insT

c.2686_2690ins3

1 paper

NM_020348.3

p.D912N

c.2734G>A

1 paper

NM_020348.3

p.G936A

c.2807G>C