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.R1234P

c.3701G>C

Surrounding Variants

1 paper

NM_014994.3

p.R1234H

c.3701G>A

1 paper

NM_014994.3

p.D1223V

c.3668A>T

1 paper

NM_014994.3

p.P1268S

c.3802C>T

1 paper

NM_014994.3

p.S1280N

c.3839G>A

1 paper

NM_014994.3

p.R1301C

c.3901C>T

1 paper

NM_014994.3

p.R1314Q

c.3941G>A

1 paper

NM_014994.3

p.T1335A

c.4003A>G

1 paper

NM_014994.3

p.A1174_K1176delFs

c.3520_3527del8

1 paper

NM_014994.3

p.E1377V

c.4130A>T

1 paper

NM_014994.3

p.S1148Y

c.3443C>A

1 paper

NM_014994.3

p.P1142H

c.3425C>A

1 paper

NM_014994.3

p.S1118*

c.3353C>A