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

1 paper

NM_020184.4

p.S196W

c.587C>G

Surrounding Variants

10 papers

NM_020184.4

p.S196P

c.586T>C

2 papers

NM_020184.4

p.S200P

c.598T>C

12 papers

NM_020184.4

p.S200Y

c.599C>A

1 paper

NM_020184.4

p.L209P

c.626T>C

1 paper

NM_020184.4

p.P181L

c.542C>T

1 paper

NM_020184.4

p.P181delFs

c.541delC

1 paper

NM_020184.4

p.F179L

c.537C>A

1 paper

NM_020184.4

p.R215S

c.643C>A

1 paper

NM_020184.4

p.R215H

c.644G>A

1 paper

NM_020184.4

p.V173G

c.518T>G

5 papers

NM_020184.4

p.L170P

c.509T>C

1 paper

NM_020184.4

p.S168P

c.502T>C