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.I73T

c.218T>C

Surrounding Variants

1 paper

NM_001105192.3

p.M63_Y64Splc

c.189+9C>T

1 paper

NM_001105192.3

p.K44Q

c.130A>C

1 paper

NM_001105192.3

p.S42Splc

c.126-4G>T

1 paper

NM_001105192.3

p.H41Y

c.121C>T

1 paper

NM_001105192.3

p.R28K

c.83G>A

1 paper

NM_001105192.3

p.H7Y

c.19C>T

1 paper

NM_001105192.3

p.Q4Q

c.12G>A

1 paper

NM_001105192.3

p.P3L

c.8C>T