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.S628*

c.1883C>G

Surrounding Variants

2 papers

NM_005921.2

p.S628*

c.1883C>A

1 paper

NM_005921.2

p.S628insFs

c.1884dupA

1 paper

NM_005921.2

p.S628L

c.1883C>T

2 papers

NM_005921.2

p.G629R

c.1885G>A

2 papers

NM_005921.2

p.G629R

c.1885G>C

1 paper

NM_005921.2

p.G629fs

c.1885_1886fs

1 paper

NM_005921.2

p.D630fs

c.1888_1889fs

1 paper

NM_005921.2

p.S626G

c.1876A>G

2 papers

NM_005921.2

p.V631insFs

c.1892dupT

1 paper

NM_005921.2

p.T625S

c.1874C>G

2 papers

NM_005921.2

p.V631A

c.1892T>C

1 paper

NM_005921.2

p.T625S

c.1873A>T