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.E911D

c.2733A>T

Surrounding Variants

1 paper

NM_001378743.1

p.E911D

c.2733A>C

1 paper

NM_001378743.1

p.E911fs

c.2731_2732fs

1 paper

NM_001378743.1

p.P910S

c.2728C>T

1 paper

NM_001378743.1

p.P910fs

c.2728_2729fs

5 papers

NM_001378743.1

p.P910insFs

c.2729dupC

1 paper

NM_001378743.1

p.Q905E

c.2713C>G

6 papers

NM_001378743.1

p.Q905*

c.2713C>T

1 paper

NM_001378743.1

p.Q905fs

c.2713_2714fs

1 paper

NM_001378743.1

p.M918_S919insFs

c.2754_2755insA

7 papers

NM_001378743.1

p.P904L

c.2711C>T

3 papers

NM_001378743.1

p.P904delFs

c.2712delT

1 paper

NM_001378743.1

p.P904fs

c.2710_2711fs