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.P36_P38insFs

c.107_114dup8

Surrounding Variants

1 paper

NM_006343.3

p.P36A

c.106C>G

1 paper

NM_006343.3

p.P36L

c.107C>T

1 paper

NM_006343.3

p.G37delFs

c.110delG

1 paper

NM_006343.3

p.G37fs

c.109_110fs

1 paper

NM_006343.3

p.P38A

c.112C>G

1 paper

NM_006343.3

p.P38S

c.112C>T

1 paper

NM_006343.3

p.P38insFs

c.113_114insT

1 paper

NM_006343.3

p.P33Q

c.98C>A

1 paper

NM_006343.3

p.P33L

c.98C>T

1 paper

NM_006343.3

p.P33fs

c.97_98fs

1 paper

NM_006343.3

p.P33delFs

c.98delC

1 paper

NM_006343.3

p.F39L

c.117T>A