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

1 paper

NM_001378743.1

p.G706ins1

c.2116_2117insATT

Surrounding Variants

1 paper

NM_001378743.1

p.G706insFs

c.2117_2118ins5

1 paper

NM_001378743.1

p.G706fs

c.2116_2117fs

3 papers

NM_001378743.1

p.G706insFs

c.2116_2117ins5

6 papers

NM_001378743.1

p.Q707*

c.2119C>T

1 paper

NM_001378743.1

p.A705P

c.2113G>C

1 paper

NM_001378743.1

p.K708K

c.2124G>A

1 paper

NM_001378743.1

p.R703Splc

c.2109-1G>T

3 papers

NM_001378743.1

p.R703Splc

c.2109-2A>C

1 paper

NM_001378743.1

p.R703Splc

c.2109-2A>T

13 papers

NM_001378743.1

p.Q710*

c.2128C>T

1 paper

NM_001378743.1

p.R703Splc

c.2109-10G>A

7 papers

NM_001378743.1

p.Y713delFs

c.2138delA