Varaico: Literature-Extracted Genetic Variants

MAP3K1

899 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded...

Pfam Domains

SWIMaa 338–366UCSCSWIM zinc finger

TOG_MAP3K1aa 552–812UCSCMitogen-activated protein kinase kinase kinase 1, TOG domain

Pkinaseaa 1243–1508UCSCProtein kinase domain

Gene Aliases

HGNC Name

mitogen-activated protein kinase kinase kinase 1

HGNC Previous Symbol

MEKK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005921.2

p.F884fs

c.2650_2651fs

Surrounding Variants

2 papers

NM_005921.2

p.Q886*

c.2656C>T

1 paper

NM_005921.2

p.A887_P890delFs

c.2659_2668del10

1 paper

NM_005921.2

p.Q881*

c.2641C>T

1 paper

NM_005921.2

p.A887fs

c.2659_2660fs

1 paper

NM_005921.2

p.A887S

c.2659G>T

2 papers

NM_005921.2

p.Q880E

c.2638C>G

1 paper

NM_005921.2

p.Q880*

c.2638C>T

1 paper

NM_005921.2

p.S888fs

c.2662_2663fs

1 paper

NM_005921.2

p.G879D

c.2636G>A

11 papers

NM_005921.2

p.V889L

c.2665G>C

2 papers

NM_005921.2

p.P890delFs

c.2668delC

1 paper

NM_005921.2

p.P890fs

c.2668_2669fs