Varaico: Literature-Extracted Genetic Variants

CAND1

103 papers

RefSeq Summary

This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unne...

Pfam Domains

HEAT_EZaa 148–202UCSCHEAT-like repeat

TPR_CAND1aa 467–593UCSCCAND1-like, TPR repeats

TIP120aa 1040–1203UCSCTATA-binding protein interacting (TIP20)

Gene Aliases

HGNC Name

cullin associated and neddylation dissociated 1

HGNC Alias Symbols

TIP120A; DKFZp434M1414; KIAA0829; TIP120

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018448.5

p.L222F

c.666G>T

Surrounding Variants

1 paper

NM_018448.5

p.L222F

c.666G>C

1 paper

NM_018448.5

p.N225delFs

c.674delA

1 paper

NM_018448.5

p.N225Y

c.673A>T

2 papers

NM_018448.5

p.H217D

c.649C>G

1 paper

NM_018448.5

p.L214H

c.641T>A

1 paper

NM_018448.5

p.I209T

c.626T>C

1 paper

NM_018448.5

p.A198D

c.593C>A

1 paper

NM_018448.5

p.L180L

c.540A>G

1 paper

NM_018448.5

p.G167R

c.499G>A

1 paper

NM_018448.5

p.G167R

c.499G>C

1 paper

NM_018448.5

p.P292L

c.875C>T

1 paper

NM_018448.5

p.I300I

c.900T>A