Varaico: Literature-Extracted Genetic Variants

Gene:TRIM71
Variant:p.L594R

TRIM71

102 papers

RefSeq Summary

The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase tran...

Pfam Domains

zf-C3HC4aa 50–94UCSCZinc finger, C3HC4 type (RING finger)
zf-B_boxaa 273–314UCSCB-box zinc finger
Filaminaa 481–577UCSCFilamin/ABP280 repeat
NHLaa 606–633UCSCNHL repeat
NHLaa 653–680UCSCNHL repeat
NHLaa 700–727UCSCNHL repeat

Gene Aliases

HGNC Name

tripartite motif containing 71

HGNC Alias Symbols

LIN41; LIN-41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039111.3
p.L594R
c.1781T>G
Surrounding Variants
1 paper
NM_001039111.3
p.L594Q
c.1781T>A
1 paper
NM_001039111.3
p.G597S
c.1789G>A
1 paper
NM_001039111.3
p.E599G
c.1796A>G
1 paper
NM_001039111.3
p.Y586Y
c.1758C>T
1 paper
NM_001039111.3
p.C607*
c.1821C>A
2 papers
NM_001039111.3
p.R608C
c.1822C>T
14 papers
NM_001039111.3
p.R608H
c.1823G>A
6 papers
NM_001039111.3
p.D624N
c.1870G>A
1 paper
NM_001039111.3
p.R625H
c.1874G>A
1 paper
NM_001039111.3
p.N627K
c.1881C>A
1 paper
NM_001039111.3
p.N627K
c.1881C>G
1 paper
NM_001039111.3
p.E559D
c.1677G>C
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