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.G853G

c.2559A>T

Surrounding Variants

1 paper

NM_018448.5

p.A838D

c.2513C>A

1 paper

NM_018448.5

p.A838S

c.2512G>T

1 paper

NM_018448.5

p.T900A

c.2698A>G

1 paper

NM_018448.5

p.P903delFs

c.2709delC

1 paper

NM_018448.5

p.R905fs

c.2713_2714fs

1 paper

NM_018448.5

p.I917L

c.2749A>C

2 papers

NM_018448.5

p.Q786E

c.2356C>G

2 papers

NM_018448.5

p.L936V

c.2806T>G

1 paper

NM_018448.5

p.L762V

c.2284C>G

1 paper

NM_018448.5

p.G946R

c.2836G>A

1 paper

NM_018448.5

p.G946R

c.2836G>C

1 paper

NM_018448.5

p.F759C

c.2276T>G