Varaico: Literature-Extracted Genetic Variants

Gene:LRRFIP2
Variant:p.H130delFs

LRRFIP2

49 papers

RefSeq Summary

The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like prot...

Pfam Domains

LRRFIPaa 31–145UCSCLRRFIP family
LRRFIPaa 31–145UCSCLRRFIP family
LRRFIPaa 279–480UCSCLRRFIP family
LRRFIPaa 279–480UCSCLRRFIP family

Gene Aliases

HGNC Name

LRR binding FLII interacting protein 2

HGNC Alias Symbol

HUFI-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006309.4
p.H130delFs
c.388_389delTG
Surrounding Variants
1 paper
NM_006309.4
p.S118L
c.353C>T
2 papers
NM_006309.4
p.Y184C
c.551A>G
1 paper
NM_006309.4
p.L197P
c.590T>C
1 paper
NM_006309.4
p.R218Q
c.653G>A
1 paper
NM_006309.4
p.I230delFs
c.688delT
1 paper
NM_006309.4
p.R234*
c.700C>T
1 paper
NM_006309.4
p.H90R
c.269A>G
1 paper
NM_006309.4
p.R270H
c.809G>A
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