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.D133A

c.398A>C

Surrounding Variants

1 paper

NM_006343.3

p.D133N

c.397G>A

1 paper

NM_006343.3

p.K132N

c.396A>C

1 paper

NM_006343.3

p.K132N

c.396A>T

1 paper

NM_006343.3

p.K132E

c.394A>G

1 paper

NM_006343.3

p.G134G

c.402G>A

5 papers

NM_006343.3

p.W131*

c.393G>A

5 papers

NM_006343.3

p.W131*

c.392G>A

6 papers

NM_006343.3

p.W130*

c.390G>A

6 papers

NM_006343.3

p.W130*

c.389G>A

1 paper

NM_006343.3

p.S129S

c.387T>A

1 paper

NM_006343.3

p.S129S

c.387T>C

1 paper

NM_006343.3

p.S129Y

c.386C>A