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.P95A

c.283C>G

Surrounding Variants

1 paper

NM_005921.2

p.P95T

c.283C>A

1 paper

NM_005921.2

p.E94K

c.280G>A

1 paper

NM_005921.2

p.A96T

c.286G>A

1 paper

NM_005921.2

p.S92W

c.275C>G

1 paper

NM_005921.2

p.A98E

c.293C>A

1 paper

NM_005921.2

p.A98_G104del0

c.294_311del18

1 paper

NM_005921.2

p.A99E

c.296C>A

1 paper

NM_005921.2

p.S90fs

c.268_269fs

2 papers

NM_005921.2

p.G100E

c.299G>A

1 paper

NM_005921.2

p.T89A

c.265A>G

1 paper

NM_005921.2

p.S88L

c.263C>T

1 paper

NM_005921.2

p.S88_T89delFs

c.264_265delGA