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.R421R

c.1263G>C

Surrounding Variants

3 papers

NM_006343.3

p.R421Q

c.1262G>A

1 paper

NM_006343.3

p.R421L

c.1262G>T

2 papers

NM_006343.3

p.R421W

c.1261C>T

1 paper

NM_006343.3

p.S423F

c.1268C>T

1 paper

NM_006343.3

p.G419R

c.1255G>C

2 papers

NM_006343.3

p.V425E

c.1274T>A

1 paper

NM_006343.3

p.E416K

c.1246G>A

1 paper

NM_006343.3

p.Q427H

c.1281G>C

1 paper

NM_006343.3

p.Q427H

c.1281G>T

8 papers

NM_006343.3

p.S428G

c.1282A>G

1 paper

NM_006343.3

p.G415E

c.1244G>A

1 paper

NM_006343.3

p.A429A

c.1287A>G