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.K190N

c.570G>T

Surrounding Variants

2 papers

NM_005921.2

p.K190N

c.570G>C

1 paper

NM_005921.2

p.A191_T192del2

c.571_575del6

2 papers

NM_005921.2

p.K190*

c.568A>T

1 paper

NM_005921.2

p.T192A

c.574A>G

1 paper

NM_005921.2

p.T192S

c.574A>T

5 papers

NM_005921.2

p.L189Q

c.566T>A

10 papers

NM_005921.2

p.L189P

c.566T>C

14 papers

NM_005921.2

p.L189R

c.566T>G

1 paper

NM_005921.2

p.T192S

c.575C>G

1 paper

NM_005921.2

p.K188I

c.563A>T

1 paper

NM_005921.2

p.C193G

c.577T>G

1 paper

NM_005921.2

p.E187G

c.560A>G