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

1 paper

NM_018294.6

p.T48delFs

c.142_143delGT

Surrounding Variants

1 paper

NM_018294.6

p.T48fs

c.142_143fs

1 paper

NM_018294.6

p.S47A

c.139T>G

1 paper

NM_018294.6

p.G46_S47delins

c.138_139delinsTG

1 paper

NM_018294.6

p.D50G

c.149A>G

1 paper

NM_018294.6

p.G42*

c.124G>T

1 paper

NM_018294.6

p.E55E

c.165G>A

1 paper

NM_018294.6

p.C40F

c.119G>T

1 paper

NM_018294.6

p.L38insFs

c.114dupG

2 papers

NM_018294.6

p.G71S

c.211G>A

1 paper

NM_018294.6

p.A90D

c.269C>A

1 paper

NM_018294.6

p.E91*

c.271G>T

1 paper

NM_018294.6

p.G97Splc

c.289+94G>A