Varaico: Literature-Extracted Genetic Variants

Gene:TLCD3B
Variant:p.Q48L

TLCD3B

53 papers

RefSeq Summary

This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obe...

Pfam Domains

TRAM_LAG1_CLN8aa 39–254UCSCTLC domain

Gene Aliases

HGNC Name

TLC domain containing 3B

HGNC Previous Symbol

FAM57B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031478.6
p.Q48L
c.143A>T
Surrounding Variants
1 paper
NM_031478.6
p.S46P
c.136T>C
1 paper
NM_031478.6
p.V44A
c.131T>C
1 paper
NM_031478.6
p.A55A
c.165C>A
2 papers
NM_031478.6
p.G56S
c.166G>A
1 paper
NM_031478.6
p.I58insFs
c.173_174insA
1 paper
NM_031478.6
p.Q70Splc
c.209+1G>A
1 paper
NM_031478.6
p.A36T
c.106G>A
1 paper
NM_031478.6
p.E32K
c.94G>A
1 paper
NM_031478.6
p.P27A
c.79C>G
1 paper
NM_031478.6
p.R25R
c.73C>A
1 paper
NM_031478.6
p.F12L
c.36C>A
1 paper
NM_031478.6
p.V6M
c.16G>A
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