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

8 papers

NM_017649.5

p.R797*

c.2389C>T

Surrounding Variants

6 papers

NM_017649.5

p.S795*

c.2384C>A

7 papers

NM_017649.5

p.S795L

c.2384C>T

2 papers

NM_017649.5

p.A770A

c.2310C>T

1 paper

NM_017649.5

p.D766N

c.2296G>A

6 papers

NM_017649.5

p.R764Q

c.2291G>A

1 paper

NM_017649.5

p.R752C

c.2254C>T

1 paper

NM_017649.5

p.N747S

c.2240A>G

1 paper

NM_017649.5

p.E746fs

c.2236_2237fs

1 paper

NM_017649.5

p.Q810H

c.2430G>C

1 paper

NM_017649.5

p.Q810H

c.2430G>T

1 paper

NM_017649.5

p.T824P

c.2470A>C

2 papers

NM_017649.5

p.L837F

c.2511G>C