Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.E596K

SARM1

102 papers

Pfam Domains

SAM_2aa 409–474UCSCSAM domain (Sterile alpha motif)
SAM_2aa 479–546UCSCSAM domain (Sterile alpha motif)
TIR_2aa 564–696UCSCTIR domain

Gene Aliases

HGNC Name

sterile alpha and TIR motif containing 1

HGNC Alias Symbols

SAMD2; KIAA0524

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_015077.4
p.E596K
c.1786G>A
Surrounding Variants
1 paper
NM_015077.4
p.E596Q
c.1786G>C
2 papers
NM_015077.4
p.K597E
c.1789A>G
1 paper
NM_015077.4
p.D594E
c.1782T>A
1 paper
NM_015077.4
p.D594E
c.1782T>G
2 papers
NM_015077.4
p.D594A
c.1781A>C
1 paper
NM_015077.4
p.D594N
c.1780G>A
2 papers
NM_015077.4
p.I593T
c.1778T>C
1 paper
NM_015077.4
p.E599Q
c.1795G>C
1 paper
NM_015077.4
p.F592S
c.1775T>C
1 paper
NM_015077.4
p.G601A
c.1802G>C
1 paper
NM_015077.4
p.K602N
c.1806G>C
1 paper
NM_015077.4
p.K602N
c.1806G>T
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