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.N77N

c.231C>T

Surrounding Variants

1 paper

NM_006343.3

p.N77S

c.230A>G

4 papers

NM_006343.3

p.V78I

c.232G>A

1 paper

NM_006343.3

p.V78A

c.233T>C

1 paper

NM_006343.3

p.G76A

c.227G>C

5 papers

NM_006343.3

p.G76fs

c.226_227fs

7 papers

NM_006343.3

p.T75delFs

c.225delA

1 paper

NM_006343.3

p.T75fs

c.223_224fs

1 paper

NM_006343.3

p.H74Q

c.222T>A

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.H74P

c.221A>C

1 paper

NM_006343.3

p.H74L

c.221A>T