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.V569fs

c.1705_1706fs

Surrounding Variants

5 papers

NM_005921.2

p.V569I

c.1705G>A

1 paper

NM_005921.2

p.L568_N576del0

c.1704_1727del24

1 paper

NM_005921.2

p.L568F

c.1702C>T

2 papers

NM_005921.2

p.G570fs

c.1708_1709fs

1 paper

NM_005921.2

p.C571C

c.1713C>T

1 paper

NM_005921.2

p.G565E

c.1694G>A

1 paper

NM_005921.2

p.S574A

c.1720T>G

2 papers

NM_005921.2

p.R575K

c.1724G>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.W577*

c.1730G>A

2 papers

NM_005921.2

p.W577*

c.1731G>A