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

1–12 of 102 variants

2 papers

NM_018448.5

p.D37V

c.110A>T

2 papers

NM_018448.5

p.K48R

c.143A>G

2 papers

NM_018448.5

p.H217D

c.649C>G

2 papers

NM_018448.5

p.E584*

c.1750G>T

2 papers

NM_018448.5

p.F759delFs

c.2275_2276delTT

2 papers

NM_018448.5

p.Q786E

c.2356C>G

2 papers

NM_018448.5

p.L936V

c.2806T>G

2 papers

NM_018448.5

p.L966F

c.2896C>T

2 papers

NM_018448.5

p.G1069C

c.3205G>T

1 paper

NM_018448.5

p.L11F

c.33G>C

1 paper

NM_018448.5

p.S17F

c.50C>T

1 paper

NM_018448.5

p.D19N

c.55G>A