Varaico: Literature-Extracted Genetic Variants

MAP3K5

275 papers

RefSeq Summary

Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/...

Pfam Domains

DRHyd-ASKaa 115–150UCSCDeoxyribohydrolase (DRHyd) domain of the ASK signalosome

MAP3K_TRAF_bdaa 165–545UCSCMAP3K TRAFs-binding domain

ASK_PHaa 555–654UCSCASK kinase PH domain

Pkinaseaa 682–938UCSCProtein kinase domain

HisK-N-likeaa 1042–1173UCSCHisK-N-like globin domain of the ASK signalosome

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 5

HGNC Previous Symbol

MEKK5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005923.4

p.R300W

c.898C>T

Surrounding Variants

1 paper

NM_005923.4

p.A293_A294Fs

c.879_880delinsAFs

1 paper

NM_005923.4

p.I306M

c.918C>G

1 paper

NM_005923.4

p.V308G

c.923T>G

1 paper

NM_005923.4

p.E291K

c.871G>A

1 paper

NM_005923.4

p.K290R

c.869A>G

1 paper

NM_005923.4

p.G289insFs

c.865_866insA

1 paper

NM_005923.4

p.T288I

c.863C>T

1 paper

NM_005923.4

p.N285fs

c.853_854fs

1 paper

NM_005923.4

p.N285delFs

c.854delT

1 paper

NM_005923.4

p.I315V

c.943A>G

1 paper

NM_005923.4

p.I280_A283delFs

c.838_847del10

1 paper

NM_005923.4

p.S320Y

c.959C>A