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.V579M

c.1735G>A

Surrounding Variants

1 paper

NM_005921.2

p.V579fs

c.1735_1736fs

2 papers

NM_005921.2

p.W577*

c.1731G>A

1 paper

NM_005921.2

p.R580K

c.1739G>A

1 paper

NM_005921.2

p.W577C

c.1731G>C

1 paper

NM_005921.2

p.W577C

c.1731G>T

2 papers

NM_005921.2

p.W577*

c.1730G>A

2 papers

NM_005921.2

p.E581K

c.1741G>A

1 paper

NM_005921.2

p.N576S

c.1727A>G

1 paper

NM_005921.2

p.N576_W577del1

c.1728_1730delCTG

2 papers

NM_005921.2

p.R575K

c.1724G>A

1 paper

NM_005921.2

p.S574A

c.1720T>G

1 paper

NM_005921.2

p.R586C

c.1756C>T