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.S522A

c.1564T>G

Surrounding Variants

1 paper

NM_006343.3

p.S522S

c.1566C>A

1 paper

NM_006343.3

p.L523fs

c.1567_1568fs

1 paper

NM_006343.3

p.Y520C

c.1559A>G

21 papers

NM_006343.3

p.I518V

c.1552A>G

1 paper

NM_006343.3

p.R526*

c.1576A>T

1 paper

NM_006343.3

p.G516R

c.1546G>A

1 paper

NM_006343.3

p.G516R

c.1546G>C

1 paper

NM_006343.3

p.R528K

c.1583G>A

1 paper

NM_006343.3

p.L514S

c.1541T>C

1 paper

NM_006343.3

p.L514ins1

c.1540_1541insCCC

1 paper

NM_006343.3

p.E531K

c.1591G>A

1 paper

NM_006343.3

p.F512F

c.1536T>C