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.Q45*

c.133C>T

Surrounding Variants

1 paper

NM_005923.4

p.L46M

c.136C>A

1 paper

NM_005923.4

p.E42K

c.124G>A

1 paper

NM_005923.4

p.P49L

c.146C>T

1 paper

NM_005923.4

p.E40K

c.118G>A

1 paper

NM_005923.4

p.R32_G39del8

c.94_116del24

1 paper

NM_005923.4

p.P50Q

c.149C>A

3 papers

NM_005923.4

p.V38G

c.113T>G

1 paper

NM_005923.4

p.V38M

c.112G>A

1 paper

NM_005923.4

p.P51del1

c.151_152delCGG

2 papers

NM_005923.4

p.S53S

c.159C>T

1 paper

NM_005923.4

p.A35E

c.104C>A

1 paper

NM_005923.4

p.W55*

c.164G>A