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.G927R

c.2779G>C

Surrounding Variants

1 paper

NM_006343.3

p.G927R

c.2779G>A

1 paper

NM_006343.3

p.R928W

c.2782C>T

1 paper

NM_006343.3

p.E926Q

c.2776G>C

1 paper

NM_006343.3

p.Y929insFs

c.2785_2786dupTA

1 paper

NM_006343.3

p.I930V

c.2788A>G

1 paper

NM_006343.3

p.I930T

c.2789T>C

1 paper

NM_006343.3

p.V919F

c.2755G>T

1 paper

NM_006343.3

p.S935insFs

c.2804_2805insA

1 paper

NM_006343.3

p.S935_E936insFs

c.2805_2806insA

1 paper

NM_006343.3

p.E937K

c.2809G>A

1 paper

NM_006343.3

p.D940Y

c.2818G>T

3 papers

NM_006343.3

p.R909H

c.2726G>A