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.S586R

c.1758C>G

Surrounding Variants

1 paper

NM_014994.3

p.S586R

c.1758C>A

1 paper

NM_014994.3

p.S586R

c.1756A>C

1 paper

NM_014994.3

p.D573D

c.1719T>C

1 paper

NM_014994.3

p.S595F

c.1784C>T

1 paper

NM_014994.3

p.D597N

c.1789G>A

1 paper

NM_014994.3

p.T604T

c.1812A>T

1 paper

NM_014994.3

p.R609Q

c.1826G>A

1 paper

NM_014994.3

p.L613F

c.1837C>T

1 paper

NM_014994.3

p.I627I

c.1881C>T

1 paper

NM_014994.3

p.K568R

c.1703A>G

1 paper

NM_014994.3

p.Q555H

c.1665G>C

1 paper

NM_014994.3

p.Q555H

c.1665G>T