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.I122T

c.365T>C

Surrounding Variants

1 paper

NM_006343.3

p.N121insFs

c.361_362insT

1 paper

NM_006343.3

p.Y123*

c.369C>A

1 paper

NM_006343.3

p.Y123*

c.369C>G

3 papers

NM_006343.3

p.Q124*

c.370C>T

1 paper

NM_006343.3

p.D125N

c.373G>A

1 paper

NM_006343.3

p.D125A

c.374A>C

1 paper

NM_006343.3

p.V119A

c.356T>C

1 paper

NM_006343.3

p.T126P

c.376A>C

11 papers

NM_006343.3

p.S118N

c.353G>A

1 paper

NM_006343.3

p.T127delFs

c.381delA

1 paper

NM_006343.3

p.I117N

c.350T>A

1 paper

NM_006343.3

p.S116S

c.348A>T