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.E698*

c.2092G>T

Surrounding Variants

1 paper

NM_014994.3

p.G695delFs

c.2085delC

1 paper

NM_014994.3

p.F682fs

c.2044_2045fs

1 paper

NM_014994.3

p.D676insFs

c.2028dupC

2 papers

NM_014994.3

p.F705delFs

c.2115delT

1 paper

NM_014994.3

p.S706delFs

c.2117delG

1 paper

NM_014994.3

p.A739insFs

c.2215dupG

1 paper

NM_014994.3

p.I627I

c.1881C>T

1 paper

NM_014994.3

p.R746Q

c.2237G>A

2 papers

NM_014994.3

p.Q757delFs

c.2271delA

1 paper

NM_014994.3

p.L613F

c.1837C>T

1 paper

NM_014994.3

p.R609Q

c.1826G>A

1 paper

NM_014994.3

p.T604T

c.1812A>T