Varaico: Literature-Extracted Genetic Variants

CNNM4

152 papers

RefSeq Summary

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encod...

Pfam Domains

Ig_CNNM4_Naa 45–176UCSCMetal transporter CNNM4-like, immunoglobulin-like domain

CNNMaa 187–358UCSCCyclin M transmembrane N-terminal domain

CBSaa 441–505UCSCCBS domain

CNBH_CNNM2_Caa 518–726UCSCMetal transporter CNNM2-like, C-terminal CNBH domain

Gene Aliases

HGNC Name

cyclin and CBS domain divalent metal cation transport mediator 4

HGNC Previous Symbol

ACDP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020184.4

p.D325N

c.973G>A

Surrounding Variants

13 papers

NM_020184.4

p.L324P

c.971T>C

1 paper

NM_020184.4

p.F318Y

c.953T>A

1 paper

NM_020184.4

p.S317R

c.951T>A

1 paper

NM_020184.4

p.S317R

c.951T>G

1 paper

NM_020184.4

p.F318delFs

c.954delT

1 paper

NM_020184.4

p.S317R

c.949A>C

1 paper

NM_020184.4

p.R333R

c.999C>A

1 paper

NM_020184.4

p.L316R

c.947T>G

1 paper

NM_020184.4

p.V335I

c.1003G>A

1 paper

NM_020184.4

p.T313N

c.938C>A

1 paper

NM_020184.4

p.L341V

c.1021C>G

1 paper

NM_020184.4

p.T306T

c.918C>T