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.K724fs

c.2170_2171fs

Surrounding Variants

5 papers

NM_001378743.1

p.K724insFs

c.2170_2171insTC

9 papers

NM_001378743.1

p.K724delFs

c.2172delA

1 paper

NM_001378743.1

p.V725F

c.2173G>T

1 paper

NM_001378743.1

p.V725fs

c.2173_2174fs

3 papers

NM_001378743.1

p.N722fs

c.2164_2165fs

2 papers

NM_001378743.1

p.N722fs

c.2164_2165fs

1 paper

NM_001378743.1

p.K721E

c.2161A>G

1 paper

NM_001378743.1

p.V727I

c.2179G>A

1 paper

NM_001378743.1

p.P728delFs

c.2184delC

1 paper

NM_001378743.1

p.N722insFs

c.2165dupA

1 paper

NM_001378743.1

p.N722delFs

c.2165delA

15 papers

NM_001378743.1

p.M719V

c.2155A>G