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.S941fs

c.2821_2822fs

Surrounding Variants

5 papers

NM_005921.2

p.T949ins0

c.2845_2847dupACA

1 paper

NM_005921.2

p.T948_T949ins0

c.2842_2847dup6

25 papers

NM_005921.2

p.T943_T944del1

c.2828_2830delCAA

8 papers

NM_005921.2

p.S941_T943del0

c.2822_2827del6

1 paper

NM_005921.2

p.T947_T949del0

c.2839_2847del9

1 paper

NM_005921.2

p.T944_T948del5

c.2830_2843del15

1 paper

NM_005921.2

p.S941*

c.2822C>A

1 paper

NM_005921.2

p.S941ins1

c.2822_2823insCAA

1 paper

NM_005921.2

p.S941*

c.2822C>G

1 paper

NM_005921.2

p.S941del1

c.2821_2823delTCA

11 papers

NM_005921.2

p.S941_T942del2

c.2821_2825del6

1 paper

NM_005921.2

p.S941_T943del3

c.2821_2828del9