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

11 papers

NM_005921.2

p.R306H

c.917G>A

Surrounding Variants

1 paper

NM_005921.2

p.R306fs

c.916_917fs

1 paper

NM_005921.2

p.R306G

c.916C>G

1 paper

NM_005921.2

p.R306C

c.916C>T

1 paper

NM_005921.2

p.R307fs

c.919_920fs

1 paper

NM_005921.2

p.R307fs

c.919_920fs

1 paper

NM_005921.2

p.R307P

c.920G>C

1 paper

NM_005921.2

p.N305H

c.913A>C

1 paper

NM_005921.2

p.T304insFs

c.910_911ins8

1 paper

NM_005921.2

p.T304fs

c.910_911fs

1 paper

NM_005921.2

p.E303fs

c.907_908fs

1 paper

NM_005921.2

p.K310fs

c.928_929fs

1 paper

NM_005921.2

p.K310E

c.928A>G