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.S924L

c.2771C>T

Surrounding Variants

1 paper

NM_005921.2

p.D926insFs

c.2776dupG

2 papers

NM_005921.2

p.D926N

c.2776G>A

1 paper

NM_005921.2

p.D926fs

c.2776_2777fs

1 paper

NM_005921.2

p.A922fs

c.2764_2765fs

1 paper

NM_005921.2

p.I927V

c.2779A>G

1 paper

NM_005921.2

p.S921N

c.2762G>A

1 paper

NM_005921.2

p.S921I

c.2762G>T

1 paper

NM_005921.2

p.S921_A922delFs

c.2763_2764delTG

1 paper

NM_005921.2

p.L920W

c.2759T>G

1 paper

NM_005921.2

p.L920fs

c.2758_2759fs

1 paper

NM_005921.2

p.L920fs

c.2758_2759fs

2 papers

NM_005921.2

p.K919_L920insFs

c.2757_2758insT