Varaico: Literature-Extracted Genetic Variants

Gene:HTR5A
Variant:p.L178fs

HTR5A

67 papers

RefSeq Summary

The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in t...

Pfam Domains

7tm_1aa 57–338UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

5-hydroxytryptamine receptor 5A

HGNC Alias Symbol

5-HT5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024012.4
p.L178fs
c.532_533fs
Surrounding Variants
1 paper
NM_024012.4
p.E183K
c.547G>A
1 paper
NM_024012.4
p.A170T
c.508G>A
1 paper
NM_024012.4
p.C192F
c.575G>T
1 paper
NM_024012.4
p.A163V
c.488C>T
1 paper
NM_024012.4
p.M161T
c.482T>C
1 paper
NM_024012.4
p.R196L
c.587G>T
1 paper
NM_024012.4
p.T150M
c.449C>T
1 paper
NM_024012.4
p.R139C
c.415C>T
1 paper
NM_024012.4
p.A134S
c.400G>T
1 paper
NM_024012.4
p.A226V
c.677C>T
1 paper
NM_024012.4
p.R230C
c.688C>T
1 paper
NM_024012.4
p.C125S
c.374G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."