Varaico: Literature-Extracted Genetic Variants

Gene:CUL4A
Variant:p.M101V

CUL4A

157 papers

RefSeq Summary

CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009].

Pfam Domains

Cullinaa 1–413UCSCCullin alpha solenoid domain
Cullin_ABaa 435–568UCSCCullin alpha+beta domain
Cullin_Nedd8aa 599–659UCSCCullin protein neddylation domain

Gene Aliases

HGNC Name

cullin 4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001008895.4
p.M101V
c.301A>G
Surrounding Variants
1 paper
NM_001008895.4
p.Y103F
c.308A>T
2 papers
NM_001008895.4
p.R107C
c.319C>T
2 papers
NM_001008895.4
p.R107P
c.320G>C
1 paper
NM_001008895.4
p.P120S
c.358C>T
1 paper
NM_001008895.4
p.F121F
c.363T>C
1 paper
NM_001008895.4
p.R122T
c.365G>C
1 paper
NM_001008895.4
p.E123Splc
c.368+2T>C
1 paper
NM_001008895.4
p.Q88_A89Splc
c.265-107T>C
1 paper
NM_001008895.4
p.Y87F
c.260A>T
1 paper
NM_001008895.4
p.E84Q
c.250G>C
1 paper
NM_001008895.4
p.Y81F
c.242A>T
1 paper
NM_001008895.4
p.S76R
c.228C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."