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.P286P

c.858A>T

Surrounding Variants

1 paper

NM_005921.2

p.P286fs

c.856_857fs

3 papers

NM_005921.2

p.R288*

c.862C>T

1 paper

NM_005921.2

p.R288Q

c.863G>A

1 paper

NM_005921.2

p.I284M

c.852C>G

1 paper

NM_005921.2

p.R289I

c.866G>T

1 paper

NM_005921.2

p.R283K

c.848G>A

1 paper

NM_005921.2

p.R283T

c.848G>C

1 paper

NM_005921.2

p.R283fs

c.847_848fs

2 papers

NM_005921.2

p.A290D

c.869C>A

1 paper

NM_005921.2

p.S281fs

c.841_842fs

2 papers

NM_005921.2

p.S292*

c.875C>A

2 papers

NM_005921.2

p.S292*

c.875C>G