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.G16_A17insCGG

c.46_50ins9

Surrounding Variants

1 paper

NM_005921.2

p.G16A

c.47G>C

3 papers

NM_005921.2

p.P15R

c.44C>G

1 paper

NM_005921.2

p.R18W

c.52A>T

1 paper

NM_005921.2

p.F14V

c.40T>G

1 paper

NM_005921.2

p.F14fs

c.40_41fs

1 paper

NM_005921.2

p.G13G

c.39A>T

1 paper

NM_005921.2

p.F14_G16del3

c.40_47del9

1 paper

NM_005921.2

p.R18K

c.53G>A

1 paper

NM_005921.2

p.A19P

c.55G>C

1 paper

NM_005921.2

p.G13insFs

c.38dupG

1 paper

NM_005921.2

p.T20A

c.58A>G

1 paper

NM_005921.2

p.S11L

c.32C>T