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.Y224C

c.671A>G

Surrounding Variants

1 paper

NM_005923.4

p.Y210S

c.629A>C

1 paper

NM_005923.4

p.P240S

c.718C>T

1 paper

NM_005923.4

p.C206Y

c.617G>A

1 paper

NM_005923.4

p.E243K

c.727G>A

2 papers

NM_005923.4

p.L246F

c.736C>T

1 paper

NM_005923.4

p.C250Y

c.749G>A

1 paper

NM_005923.4

p.P252S

c.754C>T

3 papers

NM_005923.4

p.R256C

c.766C>T

1 paper

NM_005923.4

p.Q259*

c.775C>T

1 paper

NM_005923.4

p.S268C

c.803C>G

1 paper

NM_005923.4

p.I280_A283delFs

c.838_847del10

1 paper

NM_005923.4

p.N285fs

c.853_854fs