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.Y148insFs

c.444dupT

Surrounding Variants

1 paper

NM_006343.3

p.F147L

c.441T>A

1 paper

NM_006343.3

p.F147L

c.441T>G

1 paper

NM_006343.3

p.F147L

c.439T>C

1 paper

NM_006343.3

p.Q146P

c.437A>C

1 paper

NM_006343.3

p.D150A

c.449A>C

1 paper

NM_006343.3

p.Q146*

c.436C>T

1 paper

NM_006343.3

p.Q146fs

c.436_437fs

1 paper

NM_006343.3

p.D150E

c.450T>A

1 paper

NM_006343.3

p.D150E

c.450T>G

2 papers

NM_006343.3

p.D151N

c.451G>A

1 paper

NM_006343.3

p.E152K

c.454G>A

1 paper

NM_006343.3

p.E152Q

c.454G>C