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.F355fs

c.1063_1064fs

Surrounding Variants

1 paper

NM_001378743.1

p.L354F

c.1062A>C

1 paper

NM_001378743.1

p.L354F

c.1062A>T

1 paper

NM_001378743.1

p.F355delFs

c.1063delT

1 paper

NM_001378743.1

p.Y356fs

c.1066_1067fs

1 paper

NM_001378743.1

p.Y356F

c.1067A>T

3 papers

NM_001378743.1

p.Y356*

c.1068T>A

2 papers

NM_001378743.1

p.Y356*

c.1068T>G

1 paper

NM_001378743.1

p.R351T

c.1052G>C

1 paper

NM_001378743.1

p.R351*

c.1051A>T

1 paper

NM_001378743.1

p.N359S

c.1076A>G

1 paper

NM_001378743.1

p.S361P

c.1081T>C

1 paper

NM_001378743.1

p.S361fs

c.1081_1082fs