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

20 papers

NM_006343.3

p.R651*

c.1951C>T

Surrounding Variants

1 paper

NM_006343.3

p.L653V

c.1957C>G

1 paper

NM_006343.3

p.V649F

c.1945G>T

1 paper

NM_006343.3

p.L653P

c.1958T>C

1 paper

NM_006343.3

p.N648_L652del5

c.1942_1955del15

2 papers

NM_006343.3

p.G654Splc

c.1960+1G>A

2 papers

NM_006343.3

p.G654V

c.1961G>T

1 paper

NM_006343.3

p.P647S

c.1939C>T

1 paper

NM_006343.3

p.G654Splc

c.1960+8C>T

1 paper

NM_006343.3

p.S645N

c.1934G>A

1 paper

NM_006343.3

p.K642N

c.1926A>C

1 paper

NM_006343.3

p.K642N

c.1926A>T

1 paper

NM_006343.3

p.K642Q

c.1924A>C