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.D182E

c.546T>G

Surrounding Variants

1 paper

NM_001105192.3

p.D182E

c.546T>A

1 paper

NM_001105192.3

p.L178V

c.532C>G

1 paper

NM_001105192.3

p.D190N

c.568G>A

1 paper

NM_001105192.3

p.Q143*

c.427C>T

1 paper

NM_001105192.3

p.Q131*

c.391C>T

1 paper

NM_001105192.3

p.S205S

c.615G>C

1 paper

NM_001105192.3

p.E206A

c.617A>C

1 paper

NM_001105192.3

p.R209W

c.625C>T

1 paper

NM_001105192.3

p.R215R

c.645G>C

1 paper

NM_001105192.3

p.G242G

c.726A>G

1 paper

NM_001105192.3

p.D243D

c.729C>T

1 paper

NM_001105192.3

p.E255D

c.765G>T