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.R786*

c.2356A>T

Surrounding Variants

1 paper

NM_001378743.1

p.R786fs

c.2356_2357fs

1 paper

NM_001378743.1

p.R786K

c.2357G>A

5 papers

NM_001378743.1

p.P785_R786delFs

c.2355_2358del4

1 paper

NM_001378743.1

p.P785S

c.2353C>T

1 paper

NM_001378743.1

p.Q787*

c.2359C>T

1 paper

NM_001378743.1

p.C788Y

c.2363G>A

1 paper

NM_001378743.1

p.R789W

c.2365C>T

1 paper

NM_001378743.1

p.R789Q

c.2366G>A

1 paper

NM_001378743.1

p.C791R

c.2371T>C

1 paper

NM_001378743.1

p.C791Y

c.2372G>A

2 papers

NM_001378743.1

p.M796K

c.2387T>A

1 paper

NM_001378743.1

p.E798V

c.2393A>T