Varaico: Literature-Extracted Genetic Variants

CNN2

52 papers

RefSeq Summary

The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role i...

Pfam Domains

CHaa 28–133UCSCCalponin homology (CH) domain

Calponinaa 166–190UCSCCalponin family repeat

Calponinaa 206–230UCSCCalponin family repeat

Calponinaa 245–268UCSCCalponin family repeat

Gene Aliases

HGNC Name

calponin 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004368.4

p.G139R

c.415G>A

Surrounding Variants

1 paper

NM_004368.4

p.G139R

c.415G>C

1 paper

NM_004368.4

p.K134R

c.401A>G

1 paper

NM_004368.4

p.Q169_M170Splc

c.507+1G>A

1 paper

NM_004368.4

p.H189R

c.566A>G

1 paper

NM_004368.4

p.N195S

c.584A>G

7 papers

NM_004368.4

p.M210T

c.629T>C

7 papers

NM_004368.4

p.M210I

c.630G>A

7 papers

NM_004368.4

p.M210I

c.630G>C

7 papers

NM_004368.4

p.M210I

c.630G>T

8 papers

NM_004368.4

p.G211V

c.632G>T

1 paper

NM_004368.4

p.A216S

c.646G>T

1 paper

NM_004368.4

p.Q218_V219Splc

c.655-73G>A