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.L62insFs

c.185_186insA

Surrounding Variants

1 paper

NM_005921.2

p.L62P

c.185T>C

1 paper

NM_005921.2

p.L62R

c.185T>G

1 paper

NM_005921.2

p.R63C

c.187C>T

2 papers

NM_005921.2

p.Q61R

c.182A>G

2 papers

NM_005921.2

p.Q61L

c.182A>T

1 paper

NM_005921.2

p.K64delFs

c.191_192delAA

1 paper

NM_005921.2

p.K64E

c.190A>G

1 paper

NM_005921.2

p.K64K

c.192A>G

1 paper

NM_005921.2

p.V65M

c.193G>A

4 papers

NM_005921.2

p.R59W

c.175C>T

1 paper

NM_005921.2

p.R66W

c.196C>T

1 paper

NM_005921.2

p.R58R

c.174G>C