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.E903fs

c.2707_2708fs

Surrounding Variants

1 paper

NM_005921.2

p.P902H

c.2705C>A

1 paper

NM_005921.2

p.P902fs

c.2704_2705fs

1 paper

NM_005921.2

p.S901fs

c.2701_2702fs

1 paper

NM_005921.2

p.S901delFs

c.2701delT

19 papers

NM_005921.2

p.V906I

c.2716G>A

2 papers

NM_005921.2

p.E898D

c.2694G>C

2 papers

NM_005921.2

p.E898D

c.2694G>T

1 paper

NM_005921.2

p.E898*

c.2692G>T

1 paper

NM_005921.2

p.K910_T911ins8

c.2728_2732ins24

1 paper

NM_005921.2

p.K910E

c.2728A>G

1 paper

NM_005921.2

p.E895K

c.2683G>A

1 paper

NM_005921.2

p.G912delFs

c.2735delG