Varaico: Literature-Extracted Genetic Variants

Gene:LCORL
Variant:p.E543insFs

LCORL

52 papers

RefSeq Summary

This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splic...

Pfam Domains

HTH_psqaa 277–316UCSChelix-turn-helix, Psq domain
HTH_psqaa 526–571UCSChelix-turn-helix, Psq domain
DUF4553aa 1414–1868UCSCDomain of unknown function (DUF4553)

Gene Aliases

HGNC Name

ligand dependent nuclear receptor corepressor like

HGNC Alias Symbols

MLR1; FLJ30696

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394446.1
p.E543insFs
c.1628_1629insA
Surrounding Variants
1 paper
NM_001394446.1
p.L539fs
c.1615_1616fs
1 paper
NM_001394446.1
p.M532I
c.1596G>A
1 paper
NM_001394446.1
p.N562D
c.1684A>G
1 paper
NM_001394446.1
p.N562S
c.1685A>G
1 paper
NM_001394446.1
p.N514N
c.1542T>C
1 paper
NM_001394446.1
p.L574F
c.1722G>C
1 paper
NM_001394446.1
p.S506F
c.1517C>T
1 paper
NM_001394446.1
p.E465D
c.1395A>T
1 paper
NM_001394446.1
p.E465D
c.1395A>C
1 paper
NM_001394446.1
p.S661_S662delFs
c.1983_1984delAA
1 paper
NM_001394446.1
p.T409P
c.1225A>C
1 paper
NM_001394446.1
p.V363insFs
c.1088_1089insA
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