Varaico: Literature-Extracted Genetic Variants

Gene:TRH
Variant:p.L42M

TRH

210 papers

RefSeq Summary

This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory ...

Pfam Domains

TRHaa 6–206UCSCThyrotropin-releasing hormone (TRH)

Gene Aliases

HGNC Name

thyrotropin releasing hormone

HGNC Previous Name

thyrotropin-releasing hormone

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007117.5
p.L42M
c.124C>A
Surrounding Variants
1 paper
NM_007117.5
p.G41G
c.123C>A
1 paper
NM_007117.5
p.G41S
c.121G>A
1 paper
NM_007117.5
p.D43V
c.128A>T
1 paper
NM_007117.5
p.H39Y
c.115C>T
1 paper
NM_007117.5
p.L46M
c.136C>A
1 paper
NM_007117.5
p.E38_L42delFs
c.112_124del13
1 paper
NM_007117.5
p.A37T
c.109G>A
1 paper
NM_007117.5
p.A37insFs
c.109_110ins5
1 paper
NM_007117.5
p.E50K
c.148G>A
1 paper
NM_007117.5
p.E50_R51delFs
c.150_151delGC
1 paper
NM_007117.5
p.A33E
c.98C>A
2 papers
NM_007117.5
p.E32K
c.94G>A
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