Varaico: Literature-Extracted Genetic Variants

MALT1

240 papers

RefSeq Summary

This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB sig...

Pfam Domains

Ig_3aa 124–194UCSCImmunoglobulin domain

Ig_2aa 226–308UCSCImmunoglobulin domain

Peptidase_C14aa 342–559UCSCCaspase domain

MALT1_Igaa 583–719UCSCMALT1 Ig-like domain

Gene Aliases

HGNC Name

MALT1 paracaspase

HGNC Previous Symbol

MLT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006785.4

p.S123G

c.367A>G

Surrounding Variants

1 paper

NM_006785.4

p.P125delFs

c.374delC

1 paper

NM_006785.4

p.P125fs

c.373_374fs

1 paper

NM_006785.4

p.P125Q

c.374C>A

1 paper

NM_006785.4

p.G126E

c.377G>A

1 paper

NM_006785.4

p.H115L

c.344A>T

1 paper

NM_006785.4

p.E114D

c.342A>T

1 paper

NM_006785.4

p.E114delFs

c.340_341delGA

1 paper

NM_006785.4

p.A112D

c.335C>A

1 paper

NM_006785.4

p.A112T

c.334G>A

1 paper

NM_006785.4

p.L110delFs

c.329_330delTG

1 paper

NM_006785.4

p.D108Y

c.322G>T

2 papers

NM_006785.4

p.T104fs

c.310_311fs