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

12 papers

NM_001378743.1

p.E747G

c.2240A>G

Surrounding Variants

2 papers

NM_001378743.1

p.E747K

c.2239G>A

2 papers

NM_001378743.1

p.E747fs

c.2239_2240fs

1 paper

NM_001378743.1

p.E747_A748Splc

c.2241+1G>T

5 papers

NM_001378743.1

p.E747delFs

c.2240_2241delAG

1 paper

NM_001378743.1

p.E747_A748Splc

c.2241+2T>C

1 paper

NM_001378743.1

p.E747_A748Splc

c.2241+5G>A

1 paper

NM_001378743.1

p.I739I

c.2217C>T

1 paper

NM_001378743.1

p.F738fs

c.2212_2213fs

1 paper

NM_001378743.1

p.S737Y

c.2210C>A

1 paper

NM_001378743.1

p.S737F

c.2210C>T

6 papers

NM_001378743.1

p.F738delFs

c.2214delT

1 paper

NM_001378743.1

p.W736*

c.2208G>A