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.R451Q

c.1352G>A

Surrounding Variants

1 paper

NM_018448.5

p.C454F

c.1361G>T

1 paper

NM_018448.5

p.M457L

c.1369A>C

1 paper

NM_018448.5

p.L439I

c.1315C>A

1 paper

NM_018448.5

p.A468delFs

c.1402delG

1 paper

NM_018448.5

p.A468S

c.1402G>T

1 paper

NM_018448.5

p.A468fs

c.1402_1403fs

1 paper

NM_018448.5

p.S499*

c.1496C>A

1 paper

NM_018448.5

p.P510H

c.1529C>A

1 paper

NM_018448.5

p.T562A

c.1684A>G

1 paper

NM_018448.5

p.P563L

c.1688C>T

1 paper

NM_018448.5

p.Q583H

c.1749G>C

1 paper

NM_018448.5

p.Q583H

c.1749G>T