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

Selected Variant

4 papers

NM_018294.6

p.Y202*

c.606T>A

Surrounding Variants

4 papers

NM_018294.6

p.Y202insFs

c.605dupA

4 papers

NM_018294.6

p.Y202*

c.606T>G

1 paper

NM_018294.6

p.P206A

c.616C>G

1 paper

NM_018294.6

p.R208*

c.622C>T

1 paper

NM_018294.6

p.Y192H

c.574T>C

1 paper

NM_018294.6

p.G162delFs

c.486delC

1 paper

NM_018294.6

p.G162fs

c.484_485fs

2 papers

NM_018294.6

p.C160Y

c.479G>A

1 paper

NM_018294.6

p.P156fs

c.466_467fs

6 papers

NM_018294.6

p.P156delFs

c.467delG

5 papers

NM_018294.6

p.P156fs

c.466_467fs

1 paper

NM_018294.6

p.L153_T154del1

c.459_461delGTG