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.I505_C508del4

c.1513_1523del12

Surrounding Variants

1 paper

NM_006343.3

p.V502A

c.1505T>C

1 paper

NM_006343.3

p.G507D

c.1520G>A

1 paper

NM_006343.3

p.P501A

c.1501C>G

1 paper

NM_006343.3

p.F509Y

c.1526T>A

4 papers

NM_006343.3

p.N498N

c.1494C>T

1 paper

NM_006343.3

p.C510fs

c.1528_1529fs

3 papers

NM_006343.3

p.N498S

c.1493A>G

2 papers

NM_006343.3

p.C510delFs

c.1530delT

1 paper

NM_006343.3

p.C510W

c.1530T>G

3 papers

NM_006343.3

p.G497A

c.1490G>C

1 paper

NM_006343.3

p.F512F

c.1536T>C

1 paper

NM_006343.3

p.L514ins1

c.1540_1541insCCC