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.P322S

c.964C>T

Surrounding Variants

1 paper

NM_018294.6

p.C328*

c.984C>A

3 papers

NM_018294.6

p.H348R

c.1043A>G

7 papers

NM_018294.6

p.P322Splc

c.964+1G>A

1 paper

NM_018294.6

p.Q317*

c.949C>T

7 papers

NM_018294.6

p.K316*

c.946A>T

4 papers

NM_018294.6

p.H314delFs

c.942delA

1 paper

NM_018294.6

p.H314fs

c.940_941fs

1 paper

NM_018294.6

p.R302C

c.904C>T

1 paper

NM_018294.6

p.P282S

c.844C>T

1 paper

NM_018294.6

p.S274delFs

c.822delG

2 papers

NM_018294.6

p.S274insFs

c.820dupT

1 paper

NM_018294.6

p.S274fs

c.820_821fs