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.G216R

c.646G>C

Surrounding Variants

1 paper

NM_020348.3

p.G216R

c.646G>A

1 paper

NM_020348.3

p.Y212_G213insGC

c.634_638ins6

1 paper

NM_020348.3

p.R208delFs

c.624delC

1 paper

NM_020348.3

p.R208fs

c.622_623fs

1 paper

NM_020348.3

p.A229E

c.686C>A

1 paper

NM_020348.3

p.L232_G241delFs

c.694_722del29

1 paper

NM_020348.3

p.A200D

c.599C>A

1 paper

NM_020348.3

p.A237T

c.709G>A

1 paper

NM_020348.3

p.S240G

c.718A>G

1 paper

NM_020348.3

p.S260C

c.778A>T

1 paper

NM_020348.3

p.K169R

c.506A>G

2 papers

NM_020348.3

p.V164V

c.492G>C