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.L394R

c.1181T>G

Surrounding Variants

1 paper

NM_006343.3

p.L394fs

c.1180_1181fs

2 papers

NM_006343.3

p.L394fs

c.1180_1181fs

1 paper

NM_006343.3

p.E396K

c.1186G>A

4 papers

NM_006343.3

p.F393insFs

c.1179dupT

4 papers

NM_006343.3

p.E396*

c.1186G>T

1 paper

NM_006343.3

p.E396A

c.1187A>C

1 paper

NM_006343.3

p.S397S

c.1191T>C

1 paper

NM_006343.3

p.S398insFs

c.1192dupA

1 paper

NM_006343.3

p.S398C

c.1192A>T

1 paper

NM_006343.3

p.S398fs

c.1192_1193fs

1 paper

NM_006343.3

p.V390D

c.1169T>A

1 paper

NM_006343.3

p.V390G

c.1169T>G