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

3 papers

NM_017649.5

p.V324L

c.970G>C

Surrounding Variants

8 papers

NM_017649.5

p.V324M

c.970G>A

3 papers

NM_017649.5

p.V324L

c.970G>T

1 paper

NM_017649.5

p.G322A

c.965G>C

3 papers

NM_017649.5

p.V326L

c.976G>C

6 papers

NM_017649.5

p.L321del1

c.961_963delCTG

1 paper

NM_017649.5

p.T329T

c.987G>A

10 papers

NM_017649.5

p.L330F

c.988C>T

1 paper

NM_017649.5

p.T331I

c.992C>T

7 papers

NM_017649.5

p.Y314*

c.942C>A

7 papers

NM_017649.5

p.Y314*

c.942C>G

7 papers

NM_017649.5

p.D335N

c.1003G>A

1 paper

NM_017649.5

p.D336_I337insFs

c.1008_1009insT