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.G48D

c.143G>A

Surrounding Variants

1 paper

NM_005921.2

p.R45R

c.135G>C

2 papers

NM_005921.2

p.G51D

c.152G>A

1 paper

NM_005921.2

p.R45Q

c.134G>A

1 paper

NM_005921.2

p.G51A

c.152G>C

1 paper

NM_005921.2

p.E53Q

c.157G>C

1 paper

NM_005921.2

p.L43_E46delins

c.128_137delinsC

1 paper

NM_005921.2

p.R54W

c.160C>T

1 paper

NM_005921.2

p.R54P

c.161G>C

1 paper

NM_005921.2

p.R54L

c.161G>T

1 paper

NM_005921.2

p.A55V

c.164C>T

1 paper

NM_005921.2

p.D56_R60del0

c.166_180del15

1 paper

NM_005921.2

p.A40_A47delFs

c.120_139del20