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

3 papers

NM_001378743.1

p.L440M

c.1318C>A

Surrounding Variants

1 paper

NM_001378743.1

p.S441*

c.1322C>A

1 paper

NM_001378743.1

p.S441*

c.1322C>G

1 paper

NM_001378743.1

p.A442D

c.1325C>A

5 papers

NM_001378743.1

p.Q443K

c.1327C>A

2 papers

NM_001378743.1

p.P437T

c.1309C>A

3 papers

NM_001378743.1

p.Q443*

c.1327C>T

1 paper

NM_001378743.1

p.Q443fs

c.1327_1328fs

1 paper

NM_001378743.1

p.I433F

c.1297A>T

1 paper

NM_001378743.1

p.S432N

c.1295G>A

1 paper

NM_001378743.1

p.G431E

c.1292G>A

1 paper

NM_001378743.1

p.N450delFs

c.1349_1350delAC

1 paper

NM_001378743.1

p.T429insFs

c.1286_1287insA