Varaico: Literature-Extracted Genetic Variants

MAPKBP1

78 papers

RefSeq Summary

This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein ...

Pfam Domains

WD40_MABP1-WDR62_1staa 53–386UCSCMABP1/WDR62 first WD40 domain

WD40_MABP1-WDR62_2ndaa 392–732UCSCMABP1/WDR62 second WD40 domain

WDR62-MABP1_CCaa 1410–1509UCSCWRD62/MABP1 coiled-coil

Gene Aliases

HGNC Name

mitogen-activated protein kinase binding protein 1

HGNC Alias Symbols

KIAA0596; NPHP20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014994.3

p.C250G

c.748T>G

Surrounding Variants

1 paper

NM_014994.3

p.A245V

c.734C>T

1 paper

NM_014994.3

p.G242fs

c.724_725fs

1 paper

NM_014994.3

p.C258C

c.774C>T

1 paper

NM_014994.3

p.E259K

c.775G>A

1 paper

NM_014994.3

p.D262Y

c.784G>T

1 paper

NM_014994.3

p.R198Q

c.593G>A

2 papers

NM_014994.3

p.R198*

c.592C>T

1 paper

NM_014994.3

p.N300H

c.898A>C

1 paper

NM_014994.3

p.L307V

c.919C>G

1 paper

NM_001128608.2

p.R318*

c.952C>T

1 paper

NM_014994.3

p.P313A

c.937C>G

1 paper

NM_014994.3

p.A321A

c.963T>C