Varaico: Literature-Extracted Genetic Variants

Gene:AXL
Variant:p.L50F

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
4 papers
NM_021913.5
p.L50F
c.148C>T
Surrounding Variants
1 paper
NM_021913.5
p.G49*
c.145G>T
1 paper
NM_021913.5
p.R48G
c.142C>G
2 papers
NM_021913.5
p.R48W
c.142C>T
1 paper
NM_021913.5
p.G52fs
c.154_155fs
1 paper
NM_021913.5
p.A47V
c.140C>T
1 paper
NM_021913.5
p.T53S
c.157A>T
1 paper
NM_021913.5
p.A47S
c.139G>T
1 paper
NM_021913.5
p.T53S
c.158C>G
1 paper
NM_021913.5
p.G46V
c.137G>T
1 paper
NM_021913.5
p.L54I
c.160C>A
1 paper
NM_021913.5
p.T45T
c.135A>G
1 paper
NM_021913.5
p.T45P
c.133A>C
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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."