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.R167C

c.499C>T

Surrounding Variants

1 paper

NM_017649.5

p.R167L

c.500G>T

1 paper

NM_017649.5

p.L165F

c.493C>T

1 paper

NM_017649.5

p.G171S

c.511G>A

1 paper

NM_017649.5

p.P161A

c.481C>G

1 paper

NM_017649.5

p.I152fs

c.454_455fs

1 paper

NM_017649.5

p.E184G

c.551A>G

3 papers

NM_017649.5

p.S186T

c.557G>C

1 paper

NM_017649.5

p.K187R

c.560A>G

3 papers

NM_017649.5

p.Y189C

c.566A>G

2 papers

NM_017649.5

p.P138L

c.413C>T

2 papers

NM_017649.5

p.S196P

c.586T>C

1 paper

NM_017649.5

p.L135M

c.403C>A