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.G110S

c.328G>A

Surrounding Variants

2 papers

NM_006343.3

p.G110R

c.328G>C

1 paper

NM_006343.3

p.K109T

c.326A>C

3 papers

NM_006343.3

p.K109I

c.326A>T

1 paper

NM_006343.3

p.G110G

c.330T>A

5 papers

NM_006343.3

p.K109*

c.325A>T

1 paper

NM_006343.3

p.K112E

c.334A>G

1 paper

NM_006343.3

p.H108Y

c.322C>T

1 paper

NM_006343.3

p.E107A

c.320A>C

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.F113_N114insT

c.337_341ins3

1 paper

NM_006343.3

p.S106S

c.318T>A