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

5 papers

NM_020184.4

p.S245L

c.734C>T

Surrounding Variants

1 paper

NM_020184.4

p.L243F

c.727C>T

1 paper

NM_020184.4

p.G249R

c.745G>A

1 paper

NM_020184.4

p.G249R

c.745G>C

8 papers

NM_020184.4

p.R236Q

c.707G>A

2 papers

NM_020184.4

p.R236W

c.706C>T

1 paper

NM_020184.4

p.T258P

c.772A>C

2 papers

NM_020184.4

p.E233del1

c.697_698delGAG

1 paper

NM_020184.4

p.I232fs

c.694_695fs

1 paper

NM_020184.4

p.I232_Y241delFs

c.694_722del29

1 paper

NM_020184.4

p.G266E

c.797G>A

1 paper

NM_020184.4

p.L269P

c.806T>C

1 paper

NM_020184.4

p.A271V

c.812C>T