Varaico: Literature-Extracted Genetic Variants

Gene:HAX1
Variant:p.L119_E121del3

HAX1

202 papers

RefSeq Summary

The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycysti...

Gene Aliases

HGNC Name

HCLS1 associated protein X-1

HGNC Alias Symbols

HS1BP1; HCLSBP1; HAX-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006118.4
p.L119_E121del3
c.355_362del9
Surrounding Variants
1 paper
NM_006118.4
p.R118G
c.352A>G
1 paper
NM_006118.4
p.E117*
c.349G>T
1 paper
NM_006118.4
p.E117del1
c.349_351delGAG
2 papers
NM_006118.4
p.Q123_D127delFs
c.368_381del14
1 paper
NM_006118.4
p.G116S
c.346G>A
8 papers
NM_006118.4
p.Q123fs
c.367_368fs
1 paper
NM_006118.4
p.Q123R
c.368A>G
1 paper
NM_006118.4
p.E113*
c.337G>T
1 paper
NM_006118.4
p.R126delFs
c.376delC
1 paper
NM_006118.4
p.R126fs
c.376_377fs
1 paper
NM_006118.4
p.R126W
c.376C>T
1 paper
NM_006118.4
p.R126Q
c.377G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."