Varaico: Literature-Extracted Genetic Variants

Gene:UBR3
Variant:p.I1396L

UBR3

82 papers

Pfam Domains

zf-UBRaa 119–187UCSCPutative zinc finger in N-recognin (UBR box)
WHD_UBR1aa 786–896UCSCE3 ubiquitin-protein ligase UBR1-like, winged-helix domain
PRT6_Caa 1425–1871UCSCProteolysis_6 C-terminal

Gene Aliases

HGNC Name

ubiquitin protein ligase E3 component n-recognin 3

HGNC Previous Symbol

ZNF650

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_172070.4
p.I1396L
c.4186A>C
Surrounding Variants
2 papers
NM_172070.4
p.I1396L
c.4186A>T
1 paper
NM_172070.4
p.G1404A
c.4211G>C
1 paper
NM_172070.4
p.G1404V
c.4211G>T
1 paper
NM_172070.4
p.R1386C
c.4156C>T
2 papers
NM_172070.4
p.T1413fs
c.4237_4238fs
1 paper
NM_172070.4
p.L1415I
c.4243T>A
1 paper
NM_172070.4
p.L1449V
c.4345C>G
1 paper
NM_172070.4
p.R1343Q
c.4028G>A
1 paper
NM_172070.4
p.L1463F
c.4389G>C
1 paper
NM_172070.4
p.L1463F
c.4389G>T
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