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.F251delFs

c.753delC

Surrounding Variants

1 paper

NM_017649.5

p.F251fs

c.751_752fs

1 paper

NM_017649.5

p.E247fs

c.739_740fs

1 paper

NM_017649.5

p.E247delFs

c.739delG

3 papers

NM_017649.5

p.I260F

c.778A>T

1 paper

NM_017649.5

p.S263W

c.788C>G

1 paper

NM_017649.5

p.S269P

c.805T>C

1 paper

NM_017649.5

p.S269A

c.805T>G

1 paper

NM_017649.5

p.S269*

c.806C>A

11 papers

NM_017649.5

p.S269W

c.806C>G

1 paper

NM_017649.5

p.G270V

c.809G>T

3 papers

NM_017649.5

p.F272L

c.814T>C

3 papers

NM_017649.5

p.F272L

c.816C>A