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

7 papers

NM_017649.5

p.L48P

c.143T>C

Surrounding Variants

1 paper

NM_017649.5

p.L48V

c.142C>G

1 paper

NM_017649.5

p.A45A

c.135G>A

3 papers

NM_017649.5

p.L52F

c.154C>T

2 papers

NM_017649.5

p.I40fs

c.118_119fs

3 papers

NM_017649.5

p.R38Q

c.113G>A

1 paper

NM_017649.5

p.R38fs

c.112_113fs

7 papers

NM_017649.5

p.G39delFs

c.117delG

1 paper

NM_017649.5

p.R30R

c.90C>T

3 papers

NM_017649.5

p.A28T

c.82G>A

1 paper

NM_017649.5

p.A28_R30delFs

c.82_88del7

1 paper

NM_017649.5

p.E80A

c.239A>C

1 paper

NM_017649.5

p.T82_M88del7

c.244_263del21