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.L6L

c.16C>T

Surrounding Variants

1 paper

NM_006343.3

p.L6V

c.16C>G

1 paper

NM_006343.3

p.P5insFs

c.15dupG

2 papers

NM_006343.3

p.L6L

c.18G>A

1 paper

NM_006343.3

p.P7insFs

c.19_20insC

2 papers

NM_006343.3

p.P5A

c.13C>G

1 paper

NM_006343.3

p.P5S

c.13C>T

1 paper

NM_006343.3

p.A4A

c.12C>A

1 paper

NM_006343.3

p.P7L

c.20C>T

1 paper

NM_006343.3

p.A4D

c.11C>A

3 papers

NM_006343.3

p.A4V

c.11C>T

3 papers

NM_006343.3

p.A4T

c.10G>A

1 paper

NM_006343.3

p.A4S

c.10G>T