Varaico: Literature-Extracted Genetic Variants

Gene:TSC22D2
Variant:p.Q485R

TSC22D2

40 papers

Pfam Domains

TSC22aa 694–750UCSCTSC-22/dip/bun family
TSC22aa 694–750UCSCTSC-22/dip/bun family

Gene Aliases

HGNC Name

TSC22 domain family member 2

HGNC Alias Symbols

KIAA0669; TILZ4a; TILZ4b; TILZ4c

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001303264.2
p.Q485R
c.1454A>G
Surrounding Variants
1 paper
NM_001303264.2
p.M486V
c.1456A>G
1 paper
NM_001303264.2
p.S489G
c.1465A>G
1 paper
NM_001303264.2
p.S493S
c.1479A>G
1 paper
NM_001303264.2
p.G476A
c.1427G>C
1 paper
NM_001303264.2
p.V495V
c.1485A>G
1 paper
NM_001303264.2
p.P499P
c.1497T>G
1 paper
NM_001303264.2
p.H500R
c.1499A>G
1 paper
NM_001303264.2
p.T461A
c.1381A>G
1 paper
NM_001303264.2
p.G456fs
c.1366_1367fs
1 paper
NM_001303264.2
p.G456delFs
c.1367delG
1 paper
NM_001303264.2
p.S520G
c.1558A>G
1 paper
NM_001303264.2
p.M437V
c.1309A>G
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