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.L838*

c.2513T>A

Surrounding Variants

2 papers

NM_005921.2

p.L838*

c.2513T>G

1 paper

NM_005921.2

p.L838I

c.2512T>A

2 papers

NM_005921.2

p.L838fs

c.2512_2513fs

1 paper

NM_005921.2

p.K836fs

c.2506_2507fs

1 paper

NM_005921.2

p.L841P

c.2522T>C

1 paper

NM_005921.2

p.S842N

c.2525G>A

1 paper

NM_005921.2

p.S835delFs

c.2503delT

1 paper

NM_005921.2

p.V843_S844delFs

c.2529_2530delTT

2 papers

NM_005921.2

p.V833insFs

c.2497_2498insC

2 papers

NM_005921.2

p.V833fs

c.2497_2498fs

1 paper

NM_005921.2

p.S844fs

c.2530_2531fs

1 paper

NM_005921.2

p.S844fs

c.2530_2531fs