Varaico: Literature-Extracted Genetic Variants

Gene:TLCD2
Variant:p.R230*

TLCD2

17 papers

Pfam Domains

TRAM_LAG1_CLN8aa 38–223UCSCTLC domain

Gene Aliases

HGNC Name

TLC domain containing 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164407.2
p.R230*
c.688C>T
Surrounding Variants
1 paper
NM_001164407.2
p.L227_Q228del2
c.679_683del6
1 paper
NM_001164407.2
p.N224_D225del2
c.670_674del6
1 paper
NM_001164407.2
p.H238Q
c.714T>G
1 paper
NM_001164407.2
p.H238Q
c.714T>A
1 paper
NM_001164407.2
p.E239G
c.716A>G
1 paper
NM_001164407.2
p.R220C
c.658C>T
1 paper
NM_001164407.2
p.R247H
c.740G>A
1 paper
NM_001164407.2
p.V208I
c.622G>A
1 paper
NM_001164407.2
p.M184I
c.552G>T
1 paper
NM_001164407.2
p.M184I
c.552G>C
1 paper
NM_001164407.2
p.M184I
c.552G>A
1 paper
NM_001164407.2
p.S154F
c.461C>T
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