Varaico: Literature-Extracted Genetic Variants

CNN3

34 papers

RefSeq Summary

This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar t...

Pfam Domains

CHaa 26–131UCSCCalponin homology (CH) domain

Calponinaa 164–188UCSCCalponin family repeat

Calponinaa 204–228UCSCCalponin family repeat

Calponinaa 243–267UCSCCalponin family repeat

Gene Aliases

HGNC Name

calponin 3

HGNC Previous Name

calponin 3, acidic

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001839.5

p.V238M

c.712G>A

Surrounding Variants

1 paper

NM_001839.5

p.L235F

c.705A>T

1 paper

NM_001839.5

p.L235F

c.705A>C

1 paper

NM_001839.5

p.D230D

c.690T>C

1 paper

NM_001839.5

p.N250S

c.749A>G

1 paper

NM_001839.5

p.Y261*

c.783T>G

1 paper

NM_001839.5

p.Y261*

c.783T>A

1 paper

NM_001839.5

p.S285S

c.855C>T

2 papers

NM_001839.5

p.S293A

c.877T>G

1 paper

NM_001839.5

p.Q301R

c.902A>G

1 paper

NM_001839.5

p.H309R

c.926A>G

1 paper

NM_001839.5

p.T195I

c.584C>T

1 paper

NM_001839.5

p.A181V

c.542C>T