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.S250_P257delFs

c.750_771del22

Surrounding Variants

1 paper

NM_005921.2

p.P251insFs

c.752dupC

1 paper

NM_005921.2

p.P251delFs

c.751delC

1 paper

NM_005921.2

p.P251T

c.751C>A

2 papers

NM_005921.2

p.P251fs

c.751_752fs

1 paper

NM_005921.2

p.P251S

c.751C>T

4 papers

NM_005921.2

p.R249H

c.746G>A

1 paper

NM_005921.2

p.R249S

c.745C>A

1 paper

NM_005921.2

p.R249G

c.745C>G

3 papers

NM_005921.2

p.R249C

c.745C>T

5 papers

NM_005921.2

p.R248Q

c.743G>A

5 papers

NM_005921.2

p.R248*

c.742C>T

1 paper

NM_005921.2

p.P253S

c.757C>T