Varaico: Literature-Extracted Genetic Variants

Gene:STOML2
Variant:p.M1K

STOML2

28 papers

Pfam Domains

Band_7aa 39–233UCSCSPFH domain / Band 7 family
Band_7_Caa 213–275UCSCC-terminal region of band_7

Gene Aliases

HGNC Name

stomatin like 2

HGNC Alias Symbols

SLP-2; HSPC108

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013442.3
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_013442.3
p.A6V
c.17C>T
1 paper
NM_013442.3
p.R23fs
c.67_68fs
1 paper
NM_013442.3
p.R26H
c.77G>A
1 paper
NM_013442.3
p.D102N
c.304G>A
1 paper
NM_013442.3
p.R108C
c.322C>T
1 paper
NM_013442.3
p.P112S
c.334C>T
1 paper
NM_013442.3
p.G118S
c.352G>A
1 paper
NM_013442.3
p.A130V
c.389C>T
1 paper
NM_013442.3
p.D166N
c.496G>A
1 paper
NM_013442.3
p.I170I
c.510C>T
1 paper
NM_013442.3
p.H268_N269Splc
c.805-1G>T
1 paper
NM_013442.3
p.A273S
c.817G>T
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