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

1 paper

NM_005921.2

p.E181E

c.543G>A

Surrounding Variants

1 paper

NM_005921.2

p.E182insFs

c.544_545ins5

1 paper

NM_005921.2

p.E181del1

c.541_543delGAG

1 paper

NM_005921.2

p.R183Q

c.548G>A

3 papers

NM_005921.2

p.R179H

c.536G>A

1 paper

NM_005921.2

p.R179L

c.536G>T

1 paper

NM_005921.2

p.R179G

c.535C>G

1 paper

NM_005921.2

p.R179C

c.535C>T

1 paper

NM_005921.2

p.M184I

c.552G>A

1 paper

NM_005921.2

p.M184I

c.552G>C

1 paper

NM_005921.2

p.M184I

c.552G>T

1 paper

NM_005921.2

p.I185_A191delFs

c.555_573del19

1 paper

NM_005921.2

p.R186_K188del0

c.557_562del6