Varaico: Literature-Extracted Genetic Variants

Gene:NHLRC2
Variant:p.D232G

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
1 paper
NM_198514.4
p.D232G
c.695A>G
Surrounding Variants
1 paper
NM_198514.4
p.R201fs
c.601_602fs
3 papers
NM_198514.4
p.R201fs
c.601_602fs
3 papers
NM_198514.4
p.R201delFs
c.601_602delAG
1 paper
NM_198514.4
p.R171fs
c.511_512fs
1 paper
NM_198514.4
p.R171_F176delFs
c.512_528del17
1 paper
NM_198514.4
p.L165V
c.493C>G
1 paper
NM_198514.4
p.T164T
c.492T>C
1 paper
NM_198514.4
p.D150G
c.449A>G
1 paper
NM_198514.4
p.D148G
c.443A>G
16 papers
NM_198514.4
p.D148Y
c.442G>T
5 papers
NM_198514.4
p.H143P
c.428A>C
1 paper
NM_198514.4
p.H143R
c.428A>G
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