Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.A250T

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
2 papers
NM_015077.4
p.A250T
c.748G>A
Surrounding Variants
2 papers
NM_015077.4
p.R244S
c.730C>A
2 papers
NM_015077.4
p.A240E
c.719C>A
1 paper
NM_015077.4
p.H236L
c.707A>T
1 paper
NM_015077.4
p.L265delins
c.793_794delinsCG
1 paper
NM_015077.4
p.L266delins
c.796_797delinsCG
2 papers
NM_015077.4
p.R267W
c.799C>T
1 paper
NM_015077.4
p.L268fs
c.802_803fs
1 paper
NM_015077.4
p.V274A
c.821T>C
2 papers
NM_015077.4
p.A275V
c.824C>T
3 papers
NM_015077.4
p.L223P
c.668T>C
1 paper
NM_015077.4
p.N280S
c.839A>G
1 paper
NM_015077.4
p.K281_E284del0
c.841_852del12
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