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.P267Q

c.800C>A

Surrounding Variants

1 paper

NM_005921.2

p.G268fs

c.802_803fs

1 paper

NM_005921.2

p.S266_P267insFs

c.798_799insC

1 paper

NM_005921.2

p.V269I

c.805G>A

1 paper

NM_005921.2

p.V269A

c.806T>C

2 papers

NM_005921.2

p.V269_R270delFs

c.807_808delAA

4 papers

NM_005921.2

p.E265fs

c.793_794fs

2 papers

NM_005921.2

p.E265fs

c.793_794fs

1 paper

NM_005921.2

p.R270fs

c.808_809fs

1 paper

NM_005921.2

p.R270fs

c.808_809fs

2 papers

NM_005921.2

p.S264*

c.791C>A

2 papers

NM_005921.2

p.S264*

c.791C>G

6 papers

NM_005921.2

p.S264_E265delFs

c.792_793delAG