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.P49T

c.145C>A

Surrounding Variants

1 paper

NM_006343.3

p.P49fs

c.145_146fs

1 paper

NM_006343.3

p.P49Q

c.146C>A

1 paper

NM_006343.3

p.L50_S57insFs

c.148_170dup23

2 papers

NM_006343.3

p.P49L

c.146C>T

1 paper

NM_006343.3

p.P49P

c.147G>A

1 paper

NM_006343.3

p.L50M

c.148C>A

1 paper

NM_006343.3

p.L50L

c.148C>T

1 paper

NM_006343.3

p.H47R

c.140A>G

1 paper

NM_006343.3

p.D46E

c.138C>A

1 paper

NM_006343.3

p.D46E

c.138C>G

1 paper

NM_006343.3

p.T48_P49delFs

c.144_145delAC

1 paper

NM_006343.3

p.L51F

c.153A>T