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

8 papers

NM_001378743.1

p.I769delFs

c.2305delA

Surrounding Variants

9 papers

NM_001378743.1

p.K767*

c.2299A>T

1 paper

NM_001378743.1

p.F766C

c.2297T>G

6 papers

NM_001378743.1

p.I769insFs

c.2305_2306insC

1 paper

NM_001378743.1

p.I769fs

c.2305_2306fs

1 paper

NM_001378743.1

p.I769fs

c.2305_2306fs

1 paper

NM_001378743.1

p.K764fs

c.2290_2291fs

2 papers

NM_001378743.1

p.K764*

c.2290A>T

3 papers

NM_001378743.1

p.K764fs

c.2290_2291fs

1 paper

NM_001378743.1

p.I769N

c.2306T>A

1 paper

NM_001378743.1

p.I769S

c.2306T>G

5 papers

NM_001378743.1

p.K764_L765delFs

c.2291_2295del5

1 paper

NM_001378743.1

p.F763fs

c.2287_2288fs