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.V134L

c.400G>C

Surrounding Variants

1 paper

NM_020184.4

p.V134L

c.400G>T

1 paper

NM_020184.4

p.T136N

c.407C>A

2 papers

NM_020184.4

p.M145T

c.434T>C

1 paper

NM_020184.4

p.L120P

c.359T>C

1 paper

NM_020184.4

p.L120insFs

c.359dupT

1 paper

NM_020184.4

p.A149S

c.445G>T

1 paper

NM_020184.4

p.L115P

c.344T>C

1 paper

NM_020184.4

p.R153Q

c.458G>A

1 paper

NM_020184.4

p.T112S

c.335C>G

1 paper

NM_020184.4

p.T112S

c.334A>T

1 paper

NM_020184.4

p.D157N

c.469G>A

2 papers

NM_020184.4

p.W160*

c.479G>A