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.L626F

c.1878A>C

Surrounding Variants

1 paper

NM_018448.5

p.L626F

c.1878A>T

1 paper

NM_018448.5

p.A631T

c.1891G>A

1 paper

NM_018448.5

p.R618R

c.1854A>G

1 paper

NM_018448.5

p.G649*

c.1945G>T

2 papers

NM_018448.5

p.E584*

c.1750G>T

1 paper

NM_018448.5

p.Q583H

c.1749G>C

1 paper

NM_018448.5

p.Q583H

c.1749G>T

1 paper

NM_018448.5

p.A673T

c.2017G>A

1 paper

NM_018448.5

p.P563L

c.1688C>T

1 paper

NM_018448.5

p.T562A

c.1684A>G

1 paper

NM_018448.5

p.E696*

c.2086G>T

1 paper

NM_018448.5

p.H707R

c.2120A>G