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

12 papers

NM_005921.2

p.N255S

c.764A>G

Surrounding Variants

1 paper

NM_005921.2

p.N255delFs

c.763_764delAA

2 papers

NM_005921.2

p.P257Q

c.770C>A

7 papers

NM_005921.2

p.P257L

c.770C>T

1 paper

NM_005921.2

p.P253S

c.757C>T

1 paper

NM_005921.2

p.S258fs

c.772_773fs

2 papers

NM_005921.2

p.S258*

c.773C>A

1 paper

NM_005921.2

p.S258_G259insFs

c.774_777dup4

2 papers

NM_005921.2

p.S258*

c.773C>G

1 paper

NM_005921.2

p.G259insFs

c.777dupT

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