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.R20insFs

c.58dupA

Surrounding Variants

1 paper

NM_006343.3

p.R19R

c.57T>A

1 paper

NM_006343.3

p.R20R

c.58A>C

1 paper

NM_006343.3

p.R20ins4

c.58_59ins12

1 paper

NM_006343.3

p.R20insFs

c.58_59ins28

1 paper

NM_006343.3

p.R19_R20insC

c.55_59ins3

2 papers

NM_006343.3

p.R20K

c.59G>A

3 papers

NM_006343.3

p.R20T

c.59G>C

1 paper

NM_006343.3

p.R20insFs

c.59_60ins28

1 paper

NM_006343.3

p.R20delFs

c.60delA

6 papers

NM_006343.3

p.R20S

c.60A>C

8 papers

NM_006343.3

p.R20S

c.60A>T

4 papers

NM_006343.3

p.A21G

c.62C>G