Varaico: Literature-Extracted Genetic Variants

CYLD

521 papers

RefSeq Summary

This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been ...

Pfam Domains

CAP_GLYaa 127–202UCSCCAP-Gly domain

CYLD_phos_siteaa 307–471UCSCPhosphorylation region of CYLD, unstructured

CAP_GLYaa 472–539UCSCCAP-Gly domain

UCHaa 592–895UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

CYLD lysine 63 deubiquitinase

HGNC Previous Symbol

CYLD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001378743.1

p.R397S

c.1189C>A

Surrounding Variants

3 papers

NM_001378743.1

p.R397C

c.1189C>T

1 paper

NM_001378743.1

p.R397H

c.1190G>A

1 paper

NM_001378743.1

p.D396N

c.1186G>A

1 paper

NM_001378743.1

p.S398C

c.1193C>G

1 paper

NM_001378743.1

p.F395L

c.1185T>A

1 paper

NM_001378743.1

p.F395L

c.1185T>G

1 paper

NM_001378743.1

p.F395I

c.1183T>A

2 papers

NM_001378743.1

p.S399P

c.1195T>C

1 paper

NM_001378743.1

p.F395L

c.1183T>C

1 paper

NM_001378743.1

p.F395V

c.1183T>G

1 paper

NM_001378743.1

p.P400S

c.1198C>T

1 paper

NM_001378743.1

p.T393fs

c.1177_1178fs