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.D624V

c.1871A>T

Surrounding Variants

1 paper

NM_006343.3

p.L623*

c.1868T>A

2 papers

NM_006343.3

p.S627*

c.1880C>A

2 papers

NM_006343.3

p.S627*

c.1880C>G

5 papers

NM_006343.3

p.S627S

c.1881A>G

1 paper

NM_006343.3

p.R629W

c.1885C>T

1 paper

NM_006343.3

p.R629Q

c.1886G>A

3 papers

NM_006343.3

p.I631M

c.1893C>G

1 paper

NM_006343.3

p.E632Q

c.1894G>C

1 paper

NM_006343.3

p.E632E

c.1896G>A

1 paper

NM_006343.3

p.E632D

c.1896G>C

1 paper

NM_006343.3

p.E632D

c.1896G>T

1 paper

NM_006343.3

p.E633G

c.1898A>G