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.D485A

c.1454A>C

Surrounding Variants

1 paper

NM_020184.4

p.D485V

c.1454A>T

1 paper

NM_020184.4

p.P486A

c.1456C>G

1 paper

NM_020184.4

p.Y488Y

c.1464C>T

6 papers

NM_020184.4

p.G492C

c.1474G>T

3 papers

NM_020184.4

p.G492D

c.1475G>A

8 papers

NM_020184.4

p.T495I

c.1484C>T

2 papers

NM_020184.4

p.V475M

c.1423G>A

1 paper

NM_020184.4

p.E497A

c.1490A>C

2 papers

NM_020184.4

p.D498E

c.1494C>A

2 papers

NM_020184.4

p.D498E

c.1494C>G

4 papers

NM_020184.4

p.V499M

c.1495G>A

1 paper

NM_020184.4

p.H471Y

c.1411C>T