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

1–12 of 184 variants

13 papers

NM_020184.4

p.L324P

c.971T>C

12 papers

NM_020184.4

p.S200Y

c.599C>A

11 papers

NM_020184.4

p.L438insFs

c.1312dupC

10 papers

NM_020184.4

p.S196P

c.586T>C

9 papers

NM_020184.4

p.R605*

c.1813C>T

8 papers

NM_020184.4

p.R236Q

c.707G>A

8 papers

NM_020184.4

p.T495I

c.1484C>T

6 papers

NM_020184.4

p.L438fs

c.1312_1313fs

6 papers

NM_020184.4

p.G492C

c.1474G>T

6 papers

NM_020184.4

p.R519*

c.1555C>T

6 papers

NM_020184.4

p.Q564*

c.1690C>T

5 papers

NM_020184.4

p.D63delFs

c.189delT