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

2 papers

NM_006343.3

p.V83M

c.247G>A

Surrounding Variants

1 paper

NM_006343.3

p.T84A

c.250A>G

1 paper

NM_006343.3

p.P81R

c.242C>G

1 paper

NM_006343.3

p.P81T

c.241C>A

2 papers

NM_006343.3

p.P81S

c.241C>T

1 paper

NM_006343.3

p.S85A

c.253T>G

1 paper

NM_006343.3

p.P81delFs

c.243delC

1 paper

NM_006343.3

p.P81delFs

c.241_242delCC

1 paper

NM_006343.3

p.E87K

c.259G>A

1 paper

NM_006343.3

p.E87A

c.260A>C

1 paper

NM_006343.3

p.V78A

c.233T>C

4 papers

NM_006343.3

p.V78I

c.232G>A

1 paper

NM_006343.3

p.S88A

c.262T>G