Varaico: Literature-Extracted Genetic Variants

Gene:MYD88
Variant:p.S230N

MYD88

369 papers

RefSeq Summary

This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and To...

Pfam Domains

Deathaa 30–108UCSCDeath domain
Deathaa 43–121UCSCDeath domain
TIR_2aa 163–292UCSCTIR domain

Gene Aliases

HGNC Name

MYD88 innate immune signal transduction adaptor

HGNC Previous Names

myeloid differentiation primary response gene (88); myeloid differentiation primary response 88

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_002468.5
p.S230N
c.689G>A
Surrounding Variants
1 paper
NM_002468.5
p.K231delFs
c.691delA
1 paper
NM_002468.5
p.K231_E232del2
c.691_695del6
1 paper
NM_002468.5
p.K231*
c.691A>T
1 paper
NM_002468.5
p.Y227C
c.680A>G
2 papers
NM_002468.5
p.Y227F
c.680A>T
1 paper
NM_002468.5
p.D234A
c.701A>C
1 paper
NM_002468.5
p.D226G
c.677A>G
1 paper
NM_002468.5
p.D226delFs
c.677delA
1 paper
NM_002468.5
p.D225G
c.674A>G
2 papers
NM_002468.5
p.V222V
c.666T>G
1 paper
NM_002468.5
p.K238T
c.713A>C
1 paper
NM_002468.5
p.F239insFs
c.716_717insT
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