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

7 papers

NM_001378743.1

p.Y713delFs

c.2138delA

Surrounding Variants

1 paper

NM_001378743.1

p.Y713fs

c.2137_2138fs

3 papers

NM_001378743.1

p.Q716K

c.2146C>A

1 paper

NM_001378743.1

p.Q716E

c.2146C>G

13 papers

NM_001378743.1

p.Q710*

c.2128C>T

2 papers

NM_001378743.1

p.Q716*

c.2146C>T

6 papers

NM_001378743.1

p.F718_M719insFs

c.2154_2155insT

1 paper

NM_001378743.1

p.K708K

c.2124G>A

5 papers

NM_001378743.1

p.M719insFs

c.2155dupA

15 papers

NM_001378743.1

p.M719V

c.2155A>G

1 paper

NM_001378743.1

p.M719fs

c.2155_2156fs

6 papers

NM_001378743.1

p.Q707*

c.2119C>T

1 paper

NM_001378743.1

p.N722insFs

c.2165dupA