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.R447W

c.1339C>T

Surrounding Variants

2 papers

NM_006343.3

p.A446G

c.1337C>G

4 papers

NM_006343.3

p.A446fs

c.1336_1337fs

3 papers

NM_006343.3

p.R445Q

c.1334G>A

1 paper

NM_006343.3

p.R445*

c.1333C>T

8 papers

NM_006343.3

p.R445_A446delFs

c.1335_1336delAG

1 paper

NM_006343.3

p.S444S

c.1332C>T

1 paper

NM_006343.3

p.V450L

c.1348G>C

1 paper

NM_006343.3

p.G440fs

c.1318_1319fs

1 paper

NM_006343.3

p.N454I

c.1361A>T

1 paper

NM_006343.3

p.E438K

c.1312G>A

1 paper

NM_006343.3

p.T456M

c.1367C>T

1 paper

NM_006343.3

p.L435L

c.1305C>A