Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2

NHLRC2

64 papers

Pfam Domains

Thioredoxin_8aa 78–174UCSCThioredoxin-like
NHLaa 223–251UCSCNHL repeat
NHLaa 278–304UCSCNHL repeat
NHLaa 474–502UCSCNHL repeat
NHLaa 531–559UCSCNHL repeat

Gene Aliases

HGNC Name

NHL repeat containing 2

HGNC Alias Symbols

FLJ25621; FLJ20147; FLJ33312; MGC45492; DKFZp779F115

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
16 papers
NM_198514.4
p.D148Y
c.442G>T
8 papers
NM_198514.4
p.V311A
c.932T>C
6 papers
NM_198514.4
p.V314I
c.940G>A
5 papers
NM_198514.4
p.D75V
c.224A>T
5 papers
NM_198514.4
p.H143P
c.428A>C
5 papers
NM_198514.4
p.P338L
c.1013C>T
4 papers
NM_198514.4
p.G326V
c.977G>T
3 papers
NM_198514.4
p.R201delFs
c.601_602delAG
3 papers
NM_198514.4
p.R201fs
c.601_602fs
3 papers
NM_198514.4
p.F462S
c.1385T>C
3 papers
NM_198514.4
p.A608V
c.1823C>T
2 papers
NM_198514.4
p.Q50*
c.148C>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."