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.S116T

c.346T>A

Surrounding Variants

1 paper

NM_006343.3

p.S116A

c.346T>G

10 papers

NM_006343.3

p.C115W

c.345C>G

1 paper

NM_006343.3

p.S116S

c.348A>T

1 paper

NM_006343.3

p.C115Y

c.344G>A

3 papers

NM_006343.3

p.C115G

c.343T>G

1 paper

NM_006343.3

p.I117N

c.350T>A

11 papers

NM_006343.3

p.S118N

c.353G>A

2 papers

NM_006343.3

p.F113L

c.339T>A

1 paper

NM_006343.3

p.F113_N114insT

c.337_341ins3

1 paper

NM_006343.3

p.K112N

c.336A>C

1 paper

NM_006343.3

p.K112N

c.336A>T

1 paper

NM_006343.3

p.V119A

c.356T>C