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.M735_G743del9

c.2203_2228del27

Surrounding Variants

1 paper

NM_006343.3

p.V737_C738delFs

c.2211_2214del4

1 paper

NM_006343.3

p.R732Q

c.2195G>A

6 papers

NM_006343.3

p.R732*

c.2194C>T

3 papers

NM_006343.3

p.V737I

c.2209G>A

1 paper

NM_006343.3

p.V737F

c.2209G>T

1 paper

NM_006343.3

p.V737D

c.2210T>A

1 paper

NM_006343.3

p.V739delFs

c.2215_2216delGT

11 papers

NM_006343.3

p.C738fs

c.2212_2213fs

1 paper

NM_006343.3

p.M730Splc

c.2190-1G>T

22 papers

NM_006343.3

p.C738delFs

c.2214delT

1 paper

NM_006343.3

p.C738W

c.2214T>G

1 paper

NM_006343.3

p.V739fs

c.2215_2216fs