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

2 papers

NM_005921.2

p.R208P

c.623G>C

Surrounding Variants

5 papers

NM_005921.2

p.R208Q

c.623G>A

1 paper

NM_005921.2

p.R208fs

c.622_623fs

1 paper

NM_005921.2

p.R207R

c.621G>A

1 paper

NM_005921.2

p.R208insFs

c.622dupC

1 paper

NM_005921.2

p.R207T

c.620G>C

1 paper

NM_005921.2

p.G209A

c.626G>C

1 paper

NM_005921.2

p.G209G

c.627G>A

1 paper

NM_005921.2

p.P210H

c.629C>A

2 papers

NM_005921.2

p.P210L

c.629C>T

2 papers

NM_005921.2

p.N206fs

c.616_617fs

1 paper

NM_005921.2

p.R205S

c.615A>C

1 paper

NM_005921.2

p.R205S

c.615A>T