Varaico: Literature-Extracted Genetic Variants

MERTK

1,393 papers

RefSeq Summary

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one ...

Pfam Domains

igaa 104–185UCSCImmunoglobulin domain

Ig_3aa 197–266UCSCImmunoglobulin domain

fn3aa 285–376UCSCFibronectin type III domain

PK_Tyr_Ser-Thraa 587–854UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

MER proto-oncogene, tyrosine kinase

HGNC Alias Symbols

mer; RP38; c-Eyk; Tyro12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006343.3

p.F479Y

c.1436T>A

Surrounding Variants

1 paper

NM_006343.3

p.F479C

c.1436T>G

2 papers

NM_006343.3

p.F479L

c.1437T>A

2 papers

NM_006343.3

p.F479L

c.1435T>C

2 papers

NM_006343.3

p.F479L

c.1437T>G

4 papers

NM_006343.3

p.P481S

c.1441C>T

1 paper

NM_006343.3

p.P481H

c.1442C>A

1 paper

NM_006343.3

p.P481_A482insFs

c.1443_1444insG

1 paper

NM_006343.3

p.A482delFs

c.1444delG

1 paper

NM_006343.3

p.A482T

c.1444G>A

1 paper

NM_006343.3

p.H483H

c.1449C>T

7 papers

NM_006343.3

p.G484S

c.1450G>A

1 paper

NM_006343.3

p.G484Splc

c.1450+1G>A