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.G29del1

c.85_86delGGA

Surrounding Variants

1 paper

NM_005921.2

p.G27G

c.81C>T

1 paper

NM_005921.2

p.G28V

c.83G>T

1 paper

NM_005921.2

p.G26V

c.77G>T

1 paper

NM_005921.2

p.A30S

c.88G>T

1 paper

NM_005921.2

p.A30V

c.89C>T

1 paper

NM_005921.2

p.G25del1

c.73_75delGGC

1 paper

NM_005921.2

p.E23delFs

c.68_69delAG

2 papers

NM_005921.2

p.P22L

c.65C>T

1 paper

NM_005921.2

p.S21_P22insC

c.61_65ins3

1 paper

NM_005921.2

p.T20A

c.58A>G

1 paper

NM_005921.2

p.S35N

c.104G>A

1 paper

NM_005921.2

p.A36G

c.107C>G