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

1–12 of 257 variants

4 papers

NM_005923.4

p.K709R

c.2126A>G

3 papers

NM_005923.4

p.V38G

c.113T>G

3 papers

NM_005923.4

p.R256C

c.766C>T

3 papers

NM_005923.4

p.I780F

c.2338A>T

2 papers

NM_005923.4

p.R31R

c.93G>A

2 papers

NM_005923.4

p.S53S

c.159C>T

2 papers

NM_005923.4

p.A76A

c.228C>T

2 papers

NM_005923.4

p.E197K

c.589G>A

2 papers

NM_005923.4

p.I198I

c.594A>C

2 papers

NM_005923.4

p.L246F

c.736C>T

2 papers

NM_005923.4

p.R300W

c.898C>T

2 papers

NM_005923.4

p.T407M

c.1220C>T