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.S42_L43insFs

c.126_127insAG

Surrounding Variants

1 paper

NM_006343.3

p.S42R

c.126C>A

1 paper

NM_006343.3

p.S42R

c.126C>G

1 paper

NM_006343.3

p.S42S

c.126C>T

4 papers

NM_006343.3

p.S42N

c.125G>A

1 paper

NM_006343.3

p.S42R

c.124A>C

1 paper

NM_006343.3

p.S42C

c.124A>T

1 paper

NM_006343.3

p.L43L

c.129G>A

4 papers

NM_006343.3

p.Q44K

c.130C>A

1 paper

NM_006343.3

p.G41E

c.122G>A

1 paper

NM_006343.3

p.G41V

c.122G>T

1 paper

NM_006343.3

p.Q44H

c.132A>T

1 paper

NM_006343.3

p.P40R

c.119C>G