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

1–12 of 996 variants

25 papers

NM_006343.3

p.M730Splc

c.2189+1G>T

22 papers

NM_006343.3

p.C738delFs

c.2214delT

21 papers

NM_006343.3

p.R466K

c.1397G>A

21 papers

NM_006343.3

p.I518V

c.1552A>G

20 papers

NM_006343.3

p.R651*

c.1951C>T

19 papers

NM_006343.3

p.R844C

c.2530C>T

12 papers

NM_006343.3

p.R722*

c.2164C>T

11 papers

NM_006343.3

p.S118N

c.353G>A

11 papers

NM_006343.3

p.C738fs

c.2212_2213fs

10 papers

NM_006343.3

p.A21Splc

c.61+1G>A

10 papers

NM_006343.3

p.C115W

c.345C>G

10 papers

NM_006343.3

p.S432_K433Splc

c.1296+1G>A