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.M833K

c.2498T>A

Surrounding Variants

1 paper

NM_006343.3

p.S835insFs

c.2503_2504insA

1 paper

NM_006343.3

p.E831A

c.2492A>C

1 paper

NM_006343.3

p.E831Q

c.2491G>C

1 paper

NM_006343.3

p.C836*

c.2508C>A

1 paper

NM_006343.3

p.W837delFs

c.2509delT

1 paper

NM_006343.3

p.W837fs

c.2509_2510fs

3 papers

NM_006343.3

p.L829Splc

c.2487-2A>G

1 paper

NM_006343.3

p.R838G

c.2512A>G

1 paper

NM_006343.3

p.D840N

c.2518G>A

1 paper

NM_006343.3

p.D840V

c.2519A>T

19 papers

NM_006343.3

p.R844C

c.2530C>T

2 papers

NM_006343.3

p.R844H

c.2531G>A