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.R790S

c.2370G>T

Surrounding Variants

1 paper

NM_005921.2

p.R790S

c.2370G>C

1 paper

NM_005921.2

p.Y791_K792delFs

c.2373_2374delTA

1 paper

NM_005921.2

p.Y791*

c.2373T>A

1 paper

NM_005921.2

p.Y791*

c.2373T>G

2 papers

NM_005921.2

p.K792_K793del2

c.2374_2378del6

1 paper

NM_005921.2

p.R790Splc

c.2370-4T>G

1 paper

NM_005921.2

p.L794V

c.2380C>G

2 papers

NM_005921.2

p.L794delins

c.2380_2381delinsTG

1 paper

NM_005921.2

p.L795insFs

c.2384dupT

2 papers

NM_005921.2

p.S796fs

c.2386_2387fs

1 paper

NM_005921.2

p.L797delFs

c.2389delC

1 paper

NM_005921.2

p.S796fs

c.2386_2387fs