Varaico: Literature-Extracted Genetic Variants

Gene:TSC22D4

TSC22D4

30 papers

RefSeq Summary

TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[...

Pfam Domains

TSC22aa 326–381UCSCTSC-22/dip/bun family

Gene Aliases

HGNC Name

TSC22 domain family member 4

HGNC Alias Symbols

THG-1; TILZ2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
3 papers
NM_030935.5
p.R384W
c.1150C>T
2 papers
NM_030935.5
p.D308N
c.922G>A
2 papers
NM_030935.5
p.V329M
c.985G>A
2 papers
NM_030935.5
p.P371L
c.1112C>T
1 paper
NM_030935.5
p.M1I
c.3G>C
1 paper
NM_030935.5
p.P68S
c.202C>T
1 paper
NM_030935.5
p.F72F
c.216C>T
1 paper
NM_030935.5
p.T91M
c.272C>T
1 paper
NM_030935.5
p.Y96F
c.287A>T
1 paper
NM_030935.5
p.E101fs
c.301_302fs
1 paper
NM_030935.5
p.P102S
c.304C>T
1 paper
NM_030935.5
p.E101_H103delFs
c.303_307del5
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."