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

5 papers

NM_006343.3

p.I871T

c.2612T>C

Surrounding Variants

1 paper

NM_006343.3

p.I871_V873del3

c.2611_2618del9

5 papers

NM_006343.3

p.V870I

c.2608G>A

1 paper

NM_006343.3

p.A868V

c.2603C>T

1 paper

NM_006343.3

p.A868S

c.2602G>T

1 paper

NM_006343.3

p.R865Q

c.2594G>A

9 papers

NM_006343.3

p.R865W

c.2593C>T

1 paper

NM_006343.3

p.P862_Q867del6

c.2584_2600del18

1 paper

NM_006343.3

p.L861_N866del6

c.2581_2597del18

1 paper

NM_006343.3

p.L858V

c.2572T>G

1 paper

NM_006343.3

p.A885T

c.2653G>A

1 paper

NM_006343.3

p.A885V

c.2654C>T

1 paper

NM_006343.3

p.L857P

c.2570T>C