Varaico: Literature-Extracted Genetic Variants

MAP3K4

247 papers

RefSeq Summary

The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific M...

Pfam Domains

MEKK4_Naa 51–1269UCSCMEKK4 N-terminal

MEKK4_Naa 1169–1215UCSCMEKK4 N-terminal

Pkinaseaa 1343–1601UCSCProtein kinase domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 4

HGNC Previous Symbol

MEKK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005922.4

p.E495*

c.1483G>T

Surrounding Variants

1 paper

NM_005922.4

p.K492_K493insC

c.1474_1478ins3

1 paper

NM_005922.4

p.S491A

c.1471T>G

1 paper

NM_005922.4

p.E500Q

c.1498G>C

1 paper

NM_005922.4

p.D488H

c.1462G>C

1 paper

NM_005922.4

p.S486A

c.1456T>G

1 paper

NM_005922.4

p.I484V

c.1450A>G

1 paper

NM_005922.4

p.G507fs

c.1519_1520fs

1 paper

NM_005922.4

p.F482F

c.1446C>T

1 paper

NM_005922.4

p.E514G

c.1541A>G

1 paper

NM_005922.4

p.G516V

c.1547G>T

1 paper

NM_005922.4

p.P472L

c.1415C>T

1 paper

NM_005922.4

p.V471fs

c.1411_1412fs