Varaico: Literature-Extracted Genetic Variants

Gene:MYD88
Variant:p.L252P

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
42 papers
NM_002468.5
p.L252P
c.755T>C
Surrounding Variants
1 paper
NM_002468.5
p.R251Q
c.752G>A
2 papers
NM_002468.5
p.R251*
c.751C>T
1 paper
NM_002468.5
p.P254L
c.761C>T
2 papers
NM_002468.5
p.Q249P
c.746A>C
1 paper
NM_001172567.2
p.Q257R
c.770A>G
1 paper
NM_002468.5
p.I255M
c.765C>G
1 paper
NM_002468.5
p.K256M
c.767A>T
1 paper
NM_002468.5
p.A247D
c.740C>A
4 papers
NM_002468.5
p.M260T
c.779T>C
2 papers
NM_002468.5
p.K262_E263del0
c.784_789del6
1 paper
NM_002468.5
p.K261_F264del0
c.782_790del9
1 paper
NM_002468.5
p.K261R
c.782A>G
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