Varaico: Literature-Extracted Genetic Variants

Gene:TLCD1
Variant:p.Y179*

TLCD1

21 papers

Pfam Domains

TRAM_LAG1_CLN8aa 44–227UCSCTLC domain

Gene Aliases

HGNC Name

TLC domain containing 1

HGNC Alias Name

calfacilitin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138463.4
p.Y179*
c.537C>G
Surrounding Variants
1 paper
NM_138463.4
p.Y179*
c.537C>A
1 paper
NM_138463.4
p.A185P
c.553G>C
1 paper
NM_138463.4
p.K172M
c.515A>T
1 paper
NM_138463.4
p.R196fs
c.586_587fs
1 paper
NM_138463.4
p.R154G
c.460C>G
1 paper
NM_138463.4
p.I149S
c.446T>G
1 paper
NM_138463.4
p.E145A
c.434A>C
2 papers
NM_138463.4
p.E145Q
c.433G>C
1 paper
NM_138463.4
p.E145K
c.433G>A
1 paper
NM_138463.4
p.G137V
c.410G>T
1 paper
NM_138463.4
p.L225F
c.673C>T
2 papers
NM_138463.4
p.H118N
c.352C>A
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