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.S82R

c.244A>C

Surrounding Variants

1 paper

NM_020184.4

p.S82R

c.246C>A

1 paper

NM_020184.4

p.S82R

c.246C>G

1 paper

NM_020184.4

p.Y81N

c.241T>A

1 paper

NM_020184.4

p.N85D

c.253A>G

3 papers

NM_020184.4

p.F93fs

c.277_278fs

2 papers

NM_020184.4

p.F93delFs

c.279delC

1 paper

NM_020184.4

p.T94T

c.282C>A

1 paper

NM_020184.4

p.E95Q

c.283G>C

1 paper

NM_020184.4

p.D98N

c.292G>A

1 paper

NM_020184.4

p.D63E

c.189T>A

1 paper

NM_020184.4

p.D63E

c.189T>G

5 papers

NM_020184.4

p.D63delFs

c.189delT