Varaico: Literature-Extracted Genetic Variants

Gene:GPHA2
Variant:p.A118T

GPHA2

25 papers

RefSeq Summary

GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008].

Gene Aliases

HGNC Name

glycoprotein hormone subunit alpha 2

HGNC Alias Symbols

GPA2; ZSIG51; A2; MGC126572

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_130769.4
p.A118T
c.352G>A
Surrounding Variants
2 papers
NM_130769.4
p.A116_R117del2
c.346_350del6
1 paper
NM_130769.4
p.E112K
c.334G>A
1 paper
NM_130769.4
p.G105R
c.313G>C
1 paper
NM_130769.4
p.G105R
c.313G>A
1 paper
NM_130769.4
p.C103W
c.309T>G
1 paper
NM_130769.4
p.G59S
c.175G>A
2 papers
NM_130769.4
p.S51C
c.152C>G
2 papers
NM_130769.4
p.Q49*
c.145C>T
1 paper
NM_130769.4
p.R41*
c.121C>T
2 papers
NM_130769.4
p.T39delFs
c.116_117delTG
1 paper
NM_130769.4
p.P35S
c.103C>T
1 paper
NM_130769.4
p.P35Splc
c.104-23A>T
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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."