Varaico: Literature-Extracted Genetic Variants

Gene:TM7SF2
Variant:p.F173fs

TM7SF2

43 papers

Pfam Domains

ERG4_ERG24aa 44–418UCSCErgosterol biosynthesis ERG4/ERG24 family

Gene Aliases

HGNC Name

transmembrane 7 superfamily member 2

HGNC Alias Symbols

ANG1; DHCR14A; NET47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003273.6
p.F173fs
c.517_518fs
Surrounding Variants
1 paper
NM_003273.6
p.F173insFs
c.517dupT
1 paper
NM_003273.6
p.R177Q
c.530G>A
1 paper
NM_003273.6
p.L194R
c.581T>G
1 paper
NM_003273.6
p.R195P
c.584G>C
1 paper
NM_003273.6
p.A141V
c.422C>T
1 paper
NM_003273.6
p.P127L
c.380C>T
2 papers
NM_003273.6
p.A119V
c.356C>T
1 paper
NM_003273.6
p.R82H
c.245G>A
1 paper
NM_003273.6
p.R43C
c.127C>T
1 paper
NM_003273.6
p.A37D
c.110C>A
1 paper
NM_003273.6
p.A36G
c.107C>G
1 paper
NM_003273.6
p.A207P
c.619G>C
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