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.R162fs

c.484_485fs

Surrounding Variants

5 papers

NM_005921.2

p.R162C

c.484C>T

1 paper

NM_005921.2

p.R162H

c.485G>A

1 paper

NM_005921.2

p.E163D

c.489G>C

1 paper

NM_005921.2

p.E163D

c.489G>T

1 paper

NM_005921.2

p.E165_R179del15

c.493_536del45

1 paper

NM_005921.2

p.N166_P180del15

c.496_539del45

1 paper

NM_005921.2

p.G161Splc

c.483-11C>A

1 paper

NM_005921.2

p.K167I

c.500A>T

1 paper

NM_005921.2

p.T169I

c.506C>T

1 paper

NM_005921.2

p.K171insFs

c.512_513dupAA

1 paper

NM_005921.2

p.G172_R186del15

c.514_557del45

1 paper

NM_005921.2

p.M176V

c.526A>G