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

7 papers

NM_006343.3

p.R727Q

c.2180G>A

Surrounding Variants

7 papers

NM_006343.3

p.R727*

c.2179C>T

1 paper

NM_006343.3

p.N728delFs

c.2184delC

1 paper

NM_006343.3

p.L724*

c.2171T>A

1 paper

NM_006343.3

p.L724*

c.2171T>G

25 papers

NM_006343.3

p.M730Splc

c.2189+1G>T

2 papers

NM_006343.3

p.R722Q

c.2165G>A

12 papers

NM_006343.3

p.R722*

c.2164C>T

5 papers

NM_006343.3

p.H721Q

c.2163T>A

5 papers

NM_006343.3

p.H721Q

c.2163T>G

1 paper

NM_006343.3

p.H721R

c.2162A>G

1 paper

NM_006343.3

p.H721Y

c.2161C>T

1 paper

NM_006343.3

p.G710E

c.2129G>A