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.Y581*

c.1743C>A

Surrounding Variants

2 papers

NM_020184.4

p.Y581*

c.1743C>G

1 paper

NM_020184.4

p.V584A

c.1751T>C

1 paper

NM_020184.4

p.L578L

c.1734A>G

1 paper

NM_020184.4

p.D591D

c.1773C>T

4 papers

NM_020184.4

p.N594S

c.1781A>G

1 paper

NM_020184.4

p.Y596Y

c.1788C>T

1 paper

NM_020184.4

p.S566N

c.1697G>A

1 paper

NM_020184.4

p.R599C

c.1795C>T

6 papers

NM_020184.4

p.Q564*

c.1690C>T

1 paper

NM_020184.4

p.V562F

c.1684G>T

1 paper

NM_020184.4

p.E561fs

c.1681_1682fs

3 papers

NM_020184.4

p.E561Splc

c.1682-1G>C