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

1–12 of 144 variants

26 papers

NM_017649.5

p.T568I

c.1703C>T

13 papers

NM_017649.5

p.E122K

c.364G>A

11 papers

NM_017649.5

p.S269W

c.806C>G

10 papers

NM_017649.5

p.L330F

c.988C>T

10 papers

NM_017649.5

p.E357K

c.1069G>A

9 papers

NM_017649.5

p.L418P

c.1253T>C

8 papers

NM_017649.5

p.V324M

c.970G>A

8 papers

NM_017649.5

p.V548M

c.1642G>A

8 papers

NM_017649.5

p.R797*

c.2389C>T

7 papers

NM_017649.5

p.G39delFs

c.117delG

7 papers

NM_017649.5

p.L48P

c.143T>C

7 papers

NM_017649.5

p.Y314*

c.942C>A