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

3 papers

NM_005921.2

p.S118C

c.352A>T

Surrounding Variants

2 papers

NM_005921.2

p.A117A

c.351G>C

3 papers

NM_005921.2

p.A117_S118delins

c.351_352delinsCT

2 papers

NM_005921.2

p.A117V

c.350C>T

2 papers

NM_005921.2

p.A116G

c.347C>G

1 paper

NM_005921.2

p.G115R

c.343G>A

1 paper

NM_005921.2

p.G115R

c.343G>C

1 paper

NM_005921.2

p.H114Q

c.342C>A

1 paper

NM_005921.2

p.H114Q

c.342C>G

1 paper

NM_005921.2

p.G121D

c.362G>A

3 papers

NM_005921.2

p.A122V

c.365C>T

1 paper

NM_005921.2

p.P112S

c.334C>T

1 paper

NM_005921.2

p.P111L

c.332C>T