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.H102Y

c.304C>T

Surrounding Variants

1 paper

NM_006343.3

p.I103delFs

c.308_309delTA

1 paper

NM_006343.3

p.G101_H102delFs

c.303_304delAC

2 papers

NM_006343.3

p.I103fs

c.307_308fs

2 papers

NM_006343.3

p.G101R

c.301G>A

1 paper

NM_006343.3

p.G101R

c.301G>C

1 paper

NM_006343.3

p.V100D

c.299T>A

1 paper

NM_006343.3

p.I104I

c.312A>C

1 paper

NM_006343.3

p.T99K

c.296C>A

1 paper

NM_006343.3

p.T99I

c.296C>T

6 papers

NM_006343.3

p.T99fs

c.295_296fs

1 paper

NM_006343.3

p.L105I

c.313C>A

1 paper

NM_006343.3

p.H98R

c.293A>G