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

10 papers

NM_001378743.1

p.L780*

c.2339T>G

Surrounding Variants

5 papers

NM_001378743.1

p.L780*

c.2339T>A

1 paper

NM_001378743.1

p.L781P

c.2342T>C

3 papers

NM_001378743.1

p.D779N

c.2335G>A

1 paper

NM_001378743.1

p.I777fs

c.2329_2330fs

1 paper

NM_001378743.1

p.T784Splc

c.2350+1G>A

4 papers

NM_001378743.1

p.I777delFs

c.2330_2331delTA

1 paper

NM_001378743.1

p.T784Splc

c.2350+2T>C

1 paper

NM_001378743.1

p.T784Splc

c.2350+2T>G

9 papers

NM_001378743.1

p.T784Splc

c.2350+5G>A

1 paper

NM_001378743.1

p.T784Splc

c.2350+5G>T

1 paper

NM_001378743.1

p.E774fs

c.2320_2321fs

3 papers

NM_001378743.1

p.E774delFs

c.2322delA