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.L318fs

c.952_953fs

Surrounding Variants

1 paper

NM_005921.2

p.L318*

c.953T>A

1 paper

NM_005921.2

p.L318insFs

c.954dupA

3 papers

NM_005921.2

p.L319fs

c.955_956fs

1 paper

NM_005921.2

p.L319fs

c.955_956fs

3 papers

NM_005921.2

p.Y317N

c.949T>A

1 paper

NM_005921.2

p.Y317H

c.949T>C

1 paper

NM_005921.2

p.Y317fs

c.949_950fs

1 paper

NM_005921.2

p.Y317delFs

c.949_950delTA

2 papers

NM_005921.2

p.Y317_L318delFs

c.949_952del4

1 paper

NM_005921.2

p.L319ins1

c.956_957insTAC

1 paper

NM_005921.2

p.L316P

c.947T>C

1 paper

NM_005921.2

p.L316R

c.947T>G