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.G710E

c.2129G>A

Surrounding Variants

1 paper

NM_006343.3

p.G710R

c.2128G>A

1 paper

NM_006343.3

p.G710R

c.2128G>C

6 papers

NM_006343.3

p.A708S

c.2122G>T

1 paper

NM_006343.3

p.I707L

c.2119A>C

1 paper

NM_006343.3

p.M704I

c.2112G>A

1 paper

NM_006343.3

p.M704I

c.2112G>C

1 paper

NM_006343.3

p.M704I

c.2112G>T

1 paper

NM_006343.3

p.F703fs

c.2107_2108fs

1 paper

NM_006343.3

p.K702E

c.2104A>G

1 paper

NM_006343.3

p.K702insFs

c.2105dupA

1 paper

NM_006343.3

p.H721Y

c.2161C>T

1 paper

NM_006343.3

p.H721R

c.2162A>G