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

2 papers

NM_001105192.3

p.K280R

c.839A>G

Surrounding Variants

1 paper

NM_001105192.3

p.D282H

c.844G>C

1 paper

NM_001105192.3

p.T296P

c.886A>C

1 paper

NM_001105192.3

p.S299S

c.897C>T

1 paper

NM_001105192.3

p.G305A

c.914G>C

1 paper

NM_001105192.3

p.T319T

c.957A>G

1 paper

NM_001105192.3

p.T321T

c.963C>T

1 paper

NM_001105192.3

p.S339A

c.1015T>G

1 paper

NM_001105192.3

p.E255D

c.765G>T

1 paper

NM_001105192.3

p.E255D

c.765G>C

1 paper

NM_001105192.3

p.D243D

c.729C>T

1 paper

NM_001105192.3

p.G242G

c.726A>G

1 paper

NM_001105192.3

p.T356del1

c.1066_1068delCGT