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

2 papers

NM_017649.5

p.S365F

c.1094C>T

Surrounding Variants

4 papers

NM_017649.5

p.R366P

c.1097G>C

1 paper

NM_017649.5

p.P360R

c.1079C>G

2 papers

NM_017649.5

p.E357A

c.1070A>C

10 papers

NM_017649.5

p.E357K

c.1069G>A

2 papers

NM_017649.5

p.G356A

c.1067G>C

1 paper

NM_017649.5

p.G351_V353ins1

c.1052_1057dup6

3 papers

NM_017649.5

p.M383V

c.1147A>G

1 paper

NM_017649.5

p.P388R

c.1163C>G

2 papers

NM_017649.5

p.G339D

c.1016G>A

1 paper

NM_017649.5

p.P392A

c.1174C>G

1 paper

NM_017649.5

p.D336_I337insFs

c.1008_1009insT

7 papers

NM_017649.5

p.D335N

c.1003G>A