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

13 papers

NM_017649.5

p.E122K

c.364G>A

Surrounding Variants

1 paper

NM_017649.5

p.A119V

c.356C>T

1 paper

NM_017649.5

p.R125G

c.373C>G

1 paper

NM_017649.5

p.I118delFs

c.354delC

1 paper

NM_017649.5

p.L135M

c.403C>A

1 paper

NM_017649.5

p.G107R

c.319G>A

1 paper

NM_017649.5

p.G107R

c.319G>C

2 papers

NM_017649.5

p.P138L

c.413C>T

1 paper

NM_017649.5

p.V101A

c.302T>C

1 paper

NM_017649.5

p.A92V

c.275C>T

1 paper

NM_017649.5

p.I152fs

c.454_455fs

3 papers

NM_017649.5

p.A92P

c.274G>C

1 paper

NM_017649.5

p.G91V

c.272G>T