Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1B
Variant:p.R36H

NT5C1B

41 papers

RefSeq Summary

Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2...

Pfam Domains

5-nucleotidaseaa 301–606UCSC5'-nucleotidase

Gene Aliases

HGNC Name

5'-nucleotidase, cytosolic IB

HGNC Alias Symbols

AIRP; CN-IB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033253.4
p.R36H
c.107G>A
Surrounding Variants
1 paper
NM_033253.4
p.R36C
c.106C>T
1 paper
NM_033253.4
p.P13P
c.39T>C
1 paper
NM_033253.4
p.L47L
c.139C>T
1 paper
NM_033253.4
p.R58C
c.172C>T
1 paper
NM_033253.4
p.P73S
c.217C>T
1 paper
NM_033253.4
p.P73L
c.218C>T
1 paper
NM_033253.4
p.A85T
c.253G>A
1 paper
NM_033253.4
p.A85V
c.254C>T
1 paper
NM_033253.4
p.L111L
c.331C>T
1 paper
NM_033253.4
p.Q118*
c.352C>T
2 papers
NM_033253.4
p.R145H
c.434G>A
1 paper
NM_033253.4
p.S170S
c.510G>A
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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."