Varaico: Literature-Extracted Genetic Variants

Gene:BAIAP2L1
Variant:p.D376N

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
2 papers
NM_018842.5
p.D376N
c.1126G>A
Surrounding Variants
1 paper
NM_018842.5
p.G377C
c.1129G>T
2 papers
NM_018842.5
p.T351I
c.1052C>T
1 paper
NM_018842.5
p.I347I
c.1041C>T
1 paper
NM_018842.5
p.S331A
c.991T>G
1 paper
NM_018842.5
p.S329*
c.986C>G
1 paper
NM_018842.5
p.S329*
c.986C>A
1 paper
NM_018842.5
p.G319Splc
c.956-9C>T
1 paper
NM_018842.5
p.S395P
c.1183T>C
1 paper
NM_018842.5
p.S414Splc
c.1241+1G>A
1 paper
NM_018842.5
p.A307S
c.919G>T
1 paper
NM_018842.5
p.I298I
c.894C>T
1 paper
NM_018842.5
p.E428K
c.1282G>A
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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."