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

3 papers

NM_005921.2

p.N325fs

c.973_974fs

Surrounding Variants

1 paper

NM_005921.2

p.N325fs

c.973_974fs

2 papers

NM_005921.2

p.N325_S326del1

c.975_977delCTC

1 paper

NM_005921.2

p.N325K

c.975C>A

1 paper

NM_005921.2

p.N325K

c.975C>G

1 paper

NM_005921.2

p.P324L

c.971C>T

2 papers

NM_005921.2

p.S326del1

c.976_977delTCT

1 paper

NM_005921.2

p.P324T

c.970C>A

1 paper

NM_005921.2

p.P324fs

c.970_971fs

1 paper

NM_005921.2

p.P324_N325delFs

c.971_974del4

2 papers

NM_005921.2

p.S326C

c.977C>G

1 paper

NM_005921.2

p.S326F

c.977C>T

1 paper

NM_005921.2

p.G323_P324insFs

c.969_970insT