Varaico: Literature-Extracted Genetic Variants

CNNM2

129 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 73–249UCSCMetal transporter CNNM4-like, immunoglobulin-like domain

CNNMaa 260–431UCSCCyclin M transmembrane N-terminal domain

CBSaa 514–578UCSCCBS domain

CNBH_CNNM2_Caa 592–822UCSCMetal transporter CNNM2-like, C-terminal CNBH domain

Gene Aliases

HGNC Name

cyclin and CBS domain divalent metal cation transport mediator 2

HGNC Previous Symbol

ACDP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017649.5

p.T443delFs

c.1329delC

Surrounding Variants

3 papers

NM_017649.5

p.G437E

c.1310G>A

1 paper

NM_017649.5

p.R454Q

c.1361G>A

1 paper

NM_017649.5

p.E431K

c.1291G>A

1 paper

NM_017649.5

p.D426N

c.1276G>A

1 paper

NM_017649.5

p.E462K

c.1384G>A

9 papers

NM_017649.5

p.L418P

c.1253T>C

1 paper

NM_017649.5

p.K413K

c.1239A>G

1 paper

NM_017649.5

p.G477delFs

c.1429delG

1 paper

NM_017649.5

p.G477fs

c.1429_1430fs

1 paper

NM_017649.5

p.Y478*

c.1434C>A

1 paper

NM_017649.5

p.Y478*

c.1434C>G

3 papers

NM_017649.5

p.R480L

c.1439G>T