Varaico: Literature-Extracted Genetic Variants

Gene:TSC22D4
Variant:p.D327E

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
Selected Variant
1 paper
NM_030935.5
p.D327E
c.981C>A
Surrounding Variants
1 paper
NM_030935.5
p.D327E
c.981C>G
2 papers
NM_030935.5
p.V329M
c.985G>A
1 paper
NM_030935.5
p.V329del1
c.985_986delCAC
1 paper
NM_030935.5
p.A352V
c.1055C>T
1 paper
NM_030935.5
p.R354Q
c.1061G>A
1 paper
NM_030935.5
p.R354R
c.1062G>A
1 paper
NM_030935.5
p.E346_R354del9
c.1036_1061del27
1 paper
NM_030935.5
p.A357A
c.1071G>A
2 papers
NM_030935.5
p.P371L
c.1112C>T
3 papers
NM_030935.5
p.R384W
c.1150C>T
1 paper
NM_030935.5
p.S310Splc
c.929+1G>T
2 papers
NM_030935.5
p.D308N
c.922G>A
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