Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.D75V

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
Selected Variant
5 papers
NM_198514.4
p.D75V
c.224A>T
Surrounding Variants
1 paper
NM_198514.4
p.Y73*
c.219C>A
1 paper
NM_198514.4
p.Y73*
c.219C>G
1 paper
NM_198514.4
p.L97_D99del3
c.289_296del9
1 paper
NM_198514.4
p.H105Q
c.315C>A
1 paper
NM_198514.4
p.H105Q
c.315C>G
1 paper
NM_198514.4
p.S108T
c.322T>A
1 paper
NM_198514.4
p.S108P
c.322T>C
1 paper
NM_198514.4
p.G60*
c.178G>T
2 papers
NM_198514.4
p.Q50*
c.148C>T
1 paper
NM_198514.4
p.W48R
c.142T>C
1 paper
NM_198514.4
p.D35N
c.103G>A
1 paper
NM_198514.4
p.E33del1
c.97_98delGAG
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