Varaico: Literature-Extracted Genetic Variants

TLE3

64 papers

RefSeq Summary

This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regula...

Pfam Domains

TLE_Naa 18–133UCSCGroucho/TLE N-terminal Q-rich domain

WD40aa 477–513UCSCWD domain, G-beta repeat

WD40aa 523–560UCSCWD domain, G-beta repeat

WD40aa 568–604UCSCWD domain, G-beta repeat

WD40aa 608–646UCSCWD domain, G-beta repeat

WD40aa 691–728UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

TLE family member 3, transcriptional corepressor

HGNC Alias Symbols

ESG; ESG3; KIAA1547; HsT18976; GRG3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001105192.3

p.S590S

c.1770C>T

Surrounding Variants

1 paper

NM_001105192.3

p.R533C

c.1597C>T

1 paper

NM_001105192.3

p.Y499N

c.1495T>A

1 paper

NM_001105192.3

p.S492C

c.1474A>T

1 paper

NM_001105192.3

p.A488V

c.1463C>T

1 paper

NM_001105192.3

p.V486L

c.1456G>T

1 paper

NM_001105192.3

p.R475R

c.1425G>C

1 paper

NM_001105192.3

p.I470I

c.1410C>T

1 paper

NM_001105192.3

p.G469A

c.1406G>C

1 paper

NM_001105192.3

p.R640L

c.1919G>T

1 paper

NM_001105192.3

p.W642*

c.1925G>A

1 paper

NM_001105192.3

p.Q649L

c.1946A>T

1 paper

NM_001105192.3

p.I438V

c.1312A>G