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.I461_A463del3

c.1381_1388del9

Surrounding Variants

1 paper

NM_006343.3

p.V459M

c.1375G>A

2 papers

NM_006343.3

p.V464I

c.1390G>A

1 paper

NM_006343.3

p.T456M

c.1367C>T

1 paper

NM_006343.3

p.R466delins

c.1396_1397delinsGA

21 papers

NM_006343.3

p.R466K

c.1397G>A

1 paper

NM_006343.3

p.R466I

c.1397G>T

1 paper

NM_006343.3

p.N454I

c.1361A>T

1 paper

NM_006343.3

p.G467R

c.1399G>A

2 papers

NM_006343.3

p.V469F

c.1405G>T

1 paper

NM_006343.3

p.G470fs

c.1408_1409fs

1 paper

NM_006343.3

p.V450L

c.1348G>C

1 paper

NM_006343.3

p.D474N

c.1420G>A