Varaico: Literature-Extracted Genetic Variants

Gene:TRIM71
Variant:p.R496C

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.R496C
c.1486C>T
Surrounding Variants
1 paper
NM_001039111.3
p.R496H
c.1487G>A
1 paper
NM_001039111.3
p.K495Q
c.1483A>C
1 paper
NM_001039111.3
p.K488R
c.1463A>G
1 paper
NM_001039111.3
p.F505L
c.1513T>C
1 paper
NM_001039111.3
p.F505L
c.1515C>A
1 paper
NM_001039111.3
p.F505L
c.1515C>G
2 papers
NM_001039111.3
p.R517C
c.1549C>T
1 paper
NM_001039111.3
p.S525P
c.1573T>C
1 paper
NM_001039111.3
p.D465Y
c.1393G>T
1 paper
NM_001039111.3
p.P463insFs
c.1387dupC
1 paper
NM_001039111.3
p.T462fs
c.1384_1385fs
1 paper
NM_001039111.3
p.V459_A467del9
c.1375_1400del27
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