Varaico: Literature-Extracted Genetic Variants

Gene:AXL
Variant:p.H292fs

AXL

493 papers

RefSeq Summary

The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobuli...

Pfam Domains

Ig_3aa 37–119UCSCImmunoglobulin domain
fn3aa 226–327UCSCFibronectin type III domain
fn3aa 335–424UCSCFibronectin type III domain
PK_Tyr_Ser-Thraa 536–803UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

AXL receptor tyrosine kinase

HGNC Alias Symbols

UFO; JTK11; Tyro7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_021913.5
p.H292fs
c.874_875fs
Surrounding Variants
2 papers
NM_021913.5
p.H292fs
c.874_875fs
1 paper
NM_021913.5
p.H292P
c.875A>C
1 paper
NM_021913.5
p.P291R
c.872C>G
2 papers
NM_021913.5
p.H292Q
c.876T>A
2 papers
NM_021913.5
p.H292Q
c.876T>G
3 papers
NM_021913.5
p.Q293K
c.877C>A
1 paper
NM_021913.5
p.Q293*
c.877C>T
1 paper
NM_021913.5
p.V289V
c.867G>C
2 papers
NM_021913.5
p.H292insFs
c.874dupC
3 papers
NM_021913.5
p.H292delFs
c.874delC
3 papers
NM_021913.5
p.R295W
c.883C>T
4 papers
NM_021913.5
p.V289M
c.865G>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."