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.D426A

c.1277A>C

Surrounding Variants

1 paper

NM_020184.4

p.L427L

c.1279T>C

1 paper

NM_020184.4

p.D433N

c.1297G>A

1 paper

NM_020184.4

p.V419E

c.1256T>A

11 papers

NM_020184.4

p.L438insFs

c.1312dupC

1 paper

NM_020184.4

p.T436fs

c.1306_1307fs

2 papers

NM_020184.4

p.T436delFs

c.1307delC

1 paper

NM_020184.4

p.P437delins

c.1309_1311delinsTAG

6 papers

NM_020184.4

p.L438fs

c.1312_1313fs

1 paper

NM_020184.4

p.L438P

c.1313T>C

5 papers

NM_020184.4

p.P409L

c.1226C>T

3 papers

NM_020184.4

p.R407L

c.1220G>T

1 paper

NM_020184.4

p.H450H

c.1350C>T