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.S333I

c.998G>T

Surrounding Variants

1 paper

NM_005921.2

p.S333G

c.997A>G

2 papers

NM_005921.2

p.D335delFs

c.1003_1004delGA

1 paper

NM_005921.2

p.D332N

c.994G>A

1 paper

NM_005921.2

p.D335Fs

c.1003delinsGAFs

2 papers

NM_005921.2

p.D335fs

c.1003_1004fs

1 paper

NM_005921.2

p.D335E

c.1005C>A

1 paper

NM_005921.2

p.D335E

c.1005C>G

1 paper

NM_005921.2

p.G331*

c.991G>T

1 paper

NM_005921.2

p.G331fs

c.991_992fs

2 papers

NM_005921.2

p.N336delins

c.1006_1007delinsTC

1 paper

NM_005921.2

p.G331delFs

c.992delG

2 papers

NM_005921.2

p.N336S

c.1007A>G