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.Q455fs

c.1363_1364fs

Surrounding Variants

8 papers

NM_001378743.1

p.Q455delFs

c.1364_1365delAA

1 paper

NM_001378743.1

p.Q455H

c.1365A>C

2 papers

NM_001378743.1

p.V454I

c.1360G>A

1 paper

NM_001378743.1

p.E456*

c.1366G>T

1 paper

NM_001378743.1

p.E456G

c.1367A>G

1 paper

NM_001378743.1

p.V454_Q455del2

c.1360_1364del6

1 paper

NM_001378743.1

p.P453S

c.1357C>T

1 paper

NM_001378743.1

p.S457N

c.1370G>A

1 paper

NM_001378743.1

p.A452V

c.1355C>T

1 paper

NM_001378743.1

p.P458L

c.1373C>T

1 paper

NM_001378743.1

p.T451I

c.1352C>T

1 paper

NM_001378743.1

p.T451fs

c.1351_1352fs