Varaico: Literature-Extracted Genetic Variants

Gene:BAIAP2L1
Variant:p.E157Q

BAIAP2L1

62 papers

RefSeq Summary

This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the...

Pfam Domains

IMDaa 16–236UCSCIRSp53/MIM homology domain
SH3_9aa 346–398UCSCVariant SH3 domain

Gene Aliases

HGNC Name

BAR/IMD domain containing adaptor protein 2 like 1

HGNC Alias Symbol

IRTKS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018842.5
p.E157Q
c.469G>C
Surrounding Variants
1 paper
NM_018842.5
p.A153V
c.458C>T
1 paper
NM_018842.5
p.A153T
c.457G>A
1 paper
NM_018842.5
p.T124I
c.371C>T
1 paper
NM_018842.5
p.E162_Y163Splc
c.487-2A>T
1 paper
NM_018842.5
p.E162_Y163Splc
c.487-1G>T
1 paper
NM_018842.5
p.Y163F
c.488A>T
1 paper
NM_018842.5
p.V167I
c.499G>A
1 paper
NM_018842.5
p.R192C
c.574C>T
1 paper
NM_018842.5
p.R192S
c.574C>A
1 paper
NM_018842.5
p.H200Y
c.598C>T
1 paper
NM_018842.5
p.H200R
c.599A>G
1 paper
NM_018842.5
p.K106N
c.318G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."