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

6 papers

NM_001378743.1

p.Q403*

c.1207C>T

Surrounding Variants

1 paper

NM_001378743.1

p.Q403delFs

c.1209delG

1 paper

NM_001378743.1

p.P404L

c.1211C>T

1 paper

NM_001378743.1

p.P405fs

c.1213_1214fs

1 paper

NM_001378743.1

p.P405S

c.1213C>T

1 paper

NM_001378743.1

p.P405_L410delFs

c.1214_1229del16

1 paper

NM_001378743.1

p.P406fs

c.1216_1217fs

1 paper

NM_001378743.1

p.P400S

c.1198C>T

2 papers

NM_001378743.1

p.S399P

c.1195T>C

1 paper

NM_001378743.1

p.S398C

c.1193C>G

1 paper

NM_001378743.1

p.R397H

c.1190G>A

6 papers

NM_001378743.1

p.R397S

c.1189C>A

3 papers

NM_001378743.1

p.R397C

c.1189C>T