Varaico: Literature-Extracted Genetic Variants

Gene:TLE1
Variant:p.C488W

TLE1

88 papers

Pfam Domains

TLE_Naa 18–133UCSCGroucho/TLE N-terminal Q-rich domain
WD40aa 475–511UCSCWD domain, G-beta repeat
WD40aa 519–558UCSCWD domain, G-beta repeat
WD40aa 566–602UCSCWD domain, G-beta repeat
WD40aa 606–644UCSCWD domain, G-beta repeat
WD40aa 689–726UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

TLE family member 1, transcriptional corepressor

HGNC Alias Symbols

ESG1; GRG1; ESG; TLE-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005077.5
p.C488W
c.1464C>G
Surrounding Variants
1 paper
NM_005077.5
p.C488R
c.1462T>C
1 paper
NM_005077.5
p.V486L
c.1456G>T
1 paper
NM_005077.5
p.V486L
c.1456G>C
1 paper
NM_005077.5
p.S493S
c.1479C>T
1 paper
NM_005077.5
p.N494N
c.1482C>T
1 paper
NM_005077.5
p.G502D
c.1505G>A
1 paper
NM_005077.5
p.D464fs
c.1390_1391fs
1 paper
NM_005077.5
p.F461delFs
c.1383delA
1 paper
NM_005077.5
p.V459D
c.1376T>A
1 paper
NM_005077.5
p.D525H
c.1573G>C
1 paper
NM_005077.5
p.R534H
c.1601G>A
1 paper
NM_005077.5
p.C536R
c.1606T>C
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