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.V849I

c.2545G>A

Surrounding Variants

1 paper

NM_006343.3

p.S848L

c.2543C>T

1 paper

NM_006343.3

p.R851G

c.2551A>G

1 paper

NM_006343.3

p.R851K

c.2552G>A

2 papers

NM_006343.3

p.R844H

c.2531G>A

3 papers

NM_006343.3

p.R844P

c.2531G>C

1 paper

NM_006343.3

p.L854V

c.2560C>G

19 papers

NM_006343.3

p.R844C

c.2530C>T

1 paper

NM_006343.3

p.L857P

c.2570T>C

1 paper

NM_006343.3

p.D840V

c.2519A>T

1 paper

NM_006343.3

p.D840N

c.2518G>A

1 paper

NM_006343.3

p.L858V

c.2572T>G

1 paper

NM_006343.3

p.R838G

c.2512A>G