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.D17G

c.50A>G

Surrounding Variants

1 paper

NM_020348.3

p.R21Q

c.62G>A

1 paper

NM_020348.3

p.L42L

c.124C>T

1 paper

NM_020348.3

p.R63delFs

c.189delC

1 paper

NM_020348.3

p.A65T

c.193G>A

1 paper

NM_020348.3

p.L71insFs

c.212_213insGC

1 paper

NM_020348.3

p.V74D

c.221T>A

1 paper

NM_020348.3

p.P81R

c.242C>G

1 paper

NM_020348.3

p.P113L

c.338C>T

1 paper

NM_020348.3

p.A122V

c.365C>T

1 paper

NM_020348.3

p.P128fs

c.382_383fs

2 papers

NM_020348.3

p.V164V

c.492G>C

1 paper

NM_020348.3

p.K169R

c.506A>G