Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1B
Variant:p.S254P

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.S254P
c.760T>C
Surrounding Variants
1 paper
NM_033253.4
p.S253S
c.759A>G
1 paper
NM_033253.4
p.P244L
c.731C>T
1 paper
NM_033253.4
p.I266V
c.796A>G
1 paper
NM_033253.4
p.E213_D214del2
c.637_641del6
1 paper
NM_033253.4
p.D214N
c.640G>A
1 paper
NM_033253.4
p.Q211_R212del1
c.632_634delGCT
1 paper
NM_033253.4
p.R201P
c.602G>C
1 paper
NM_033253.4
p.P180S
c.538C>T
1 paper
NM_033253.4
p.S170S
c.510G>A
2 papers
NM_033253.4
p.R145H
c.434G>A
1 paper
NM_033253.4
p.Q118*
c.352C>T
1 paper
NM_033253.4
p.L111L
c.331C>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."