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.L78H

c.233T>A

Surrounding Variants

12 papers

NM_005921.2

p.L78P

c.233T>C

1 paper

NM_005921.2

p.L78delins

c.233_234delinsCT

2 papers

NM_005921.2

p.Q76H

c.228G>C

2 papers

NM_005921.2

p.Q76H

c.228G>T

1 paper

NM_005921.2

p.Q76P

c.227A>C

1 paper

NM_005921.2

p.Q76_P77delins

c.226_229delinsTAGT

1 paper

NM_005921.2

p.A81_S83del3

c.241_248del9

1 paper

NM_005921.2

p.A81T

c.241G>A

1 paper

NM_005921.2

p.S83_P85delFs

c.247_254del8

1 paper

NM_005921.2

p.A81G

c.242C>G

1 paper

NM_005921.2

p.A81V

c.242C>T

1 paper

NM_005921.2

p.A81A

c.243C>T