Varaico: Literature-Extracted Genetic Variants

Gene:GPHB5

GPHB5

10 papers

RefSeq Summary

GPHB5 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].

Pfam Domains

Cys_knotaa 33–130UCSCCystine-knot domain

Gene Aliases

HGNC Name

glycoprotein hormone subunit beta 5

HGNC Alias Symbols

ZLUT1; GPB5

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_145171.4
p.R39delFs
c.116_117delCC
2 papers
NM_145171.4
p.D116_C117del2
c.346_350del6
1 paper
NM_145171.4
p.A4A
c.12A>T
1 paper
NM_145171.4
p.A12T
c.34G>A
1 paper
NM_145171.4
p.G18S
c.52G>A
1 paper
NM_145171.4
p.F33L
c.97T>C
1 paper
NM_145171.4
p.G52insFs
c.155_156insC
1 paper
NM_145171.4
p.G52A
c.155G>C
1 paper
NM_145171.4
p.G52fs
c.154_155fs
1 paper
NM_145171.4
p.L53insFs
c.157_158insC
1 paper
NM_145171.4
p.P101L
c.302C>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."