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.V567I

c.1699G>A

Surrounding Variants

26 papers

NM_017649.5

p.T568I

c.1703C>T

1 paper

NM_017649.5

p.G565A

c.1694G>C

1 paper

NM_017649.5

p.E570fs

c.1708_1709fs

1 paper

NM_017649.5

p.E562D

c.1686A>C

1 paper

NM_017649.5

p.E562D

c.1686A>T

3 papers

NM_017649.5

p.D558A

c.1673A>C

1 paper

NM_017649.5

p.N553T

c.1658A>C

1 paper

NM_017649.5

p.V551A

c.1652T>C

8 papers

NM_017649.5

p.V548M

c.1642G>A

2 papers

NM_017649.5

p.S614S

c.1842T>C

1 paper

NM_017649.5

p.R630H

c.1889G>A

1 paper

NM_017649.5

p.E635Splc

c.1904-1G>C