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.R586C

c.1756C>T

Surrounding Variants

3 papers

NM_005921.2

p.R586H

c.1757G>A

6 papers

NM_005921.2

p.L587H

c.1760T>A

1 paper

NM_005921.2

p.S588fs

c.1762_1763fs

2 papers

NM_005921.2

p.S588_H589insFs

c.1764_1765ins8

1 paper

NM_005921.2

p.D590A

c.1769A>C

2 papers

NM_005921.2

p.E581K

c.1741G>A

1 paper

NM_005921.2

p.R580K

c.1739G>A

1 paper

NM_005921.2

p.S592fs

c.1774_1775fs

1 paper

NM_005921.2

p.S592fs

c.1774_1775fs

1 paper

NM_005921.2

p.S592N

c.1775G>A

1 paper

NM_005921.2

p.S592I

c.1775G>T

1 paper

NM_005921.2

p.V579M

c.1735G>A