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

1 paper

NM_005923.4

p.D408N

c.1222G>A

Surrounding Variants

2 papers

NM_005923.4

p.T407M

c.1220C>T

1 paper

NM_005923.4

p.T407A

c.1219A>G

1 paper

NM_005923.4

p.E410delFs

c.1229delT

1 paper

NM_005923.4

p.G415R

c.1243G>C

1 paper

NM_005923.4

p.G415R

c.1243G>A

1 paper

NM_005923.4

p.W418Splc

c.1253+2T>G

1 paper

NM_005923.4

p.V379V

c.1137G>T

1 paper

NM_005923.4

p.M375V

c.1123A>G

1 paper

NM_005923.4

p.N363S

c.1088A>G

1 paper

NM_005923.4

p.K332Q

c.994A>C

1 paper

NM_005923.4

p.S320Y

c.959C>A

1 paper

NM_005923.4

p.I315V

c.943A>G