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.G58G

c.174G>T

Surrounding Variants

2 papers

NM_006343.3

p.G58fs

c.172_173fs

1 paper

NM_006343.3

p.Y59*

c.177C>A

2 papers

NM_006343.3

p.S57N

c.170G>A

1 paper

NM_006343.3

p.S57_Y59delFs

c.171_177del7

1 paper

NM_006343.3

p.Q60P

c.179A>C

1 paper

NM_006343.3

p.P61T

c.181C>A

1 paper

NM_006343.3

p.P61A

c.181C>G

1 paper

NM_006343.3

p.A56V

c.167C>T

1 paper

NM_006343.3

p.P61L

c.182C>T

1 paper

NM_006343.3

p.A56T

c.166G>A

2 papers

NM_006343.3

p.A56P

c.166G>C

2 papers

NM_006343.3

p.A62V

c.185C>T