Varaico: Literature-Extracted Genetic Variants

CWF19L1

71 papers

RefSeq Summary

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splici...

Pfam Domains

CwfJ_C_1aa 316–435UCSCProtein similar to CwfJ C-terminal

CwfJ_C_2aa 440–535UCSCProtein similar to CwfJ C-terminus 2

Gene Aliases

HGNC Name

CWF19 like cell cycle control factor 1

HGNC Alias Symbols

FLJ10998; hDrn1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 85 variants

7 papers

NM_018294.6

p.D13H

c.37G>C

7 papers

NM_018294.6

p.K316*

c.946A>T

7 papers

NM_018294.6

p.P322Splc

c.964+1G>A

6 papers

NM_018294.6

p.P156delFs

c.467delG

5 papers

NM_018294.6

p.P156fs

c.466_467fs

4 papers

NM_018294.6

p.D132G

c.395A>G

4 papers

NM_018294.6

p.Y202insFs

c.605dupA

4 papers

NM_018294.6

p.Y202*

c.606T>G

4 papers

NM_018294.6

p.Y202*

c.606T>A

4 papers

NM_018294.6

p.H314delFs

c.942delA

3 papers

NM_018294.6

p.H348R

c.1043A>G

2 papers

NM_018294.6

p.L8Splc

c.24-1G>C