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.M590V

c.1768A>G

Surrounding Variants

1 paper

NM_006785.4

p.M590fs

c.1768_1769fs

1 paper

NM_006785.4

p.C591delFs

c.1771_1772delTG

1 paper

NM_006785.4

p.E588K

c.1762G>A

1 paper

NM_006785.4

p.P587_C591del0

c.1760_1771del12

1 paper

NM_006785.4

p.G597R

c.1789G>C

6 papers

NM_006785.4

p.I600N

c.1799T>A

1 paper

NM_006785.4

p.G603*

c.1807G>T

1 paper

NM_006785.4

p.A605T

c.1813G>A

1 paper

NM_006785.4

p.A605delFs

c.1814_1815delCA

1 paper

NM_006785.4

p.I618V

c.1852A>G

1 paper

NM_006785.4

p.I618T

c.1853T>C

1 paper

NM_006785.4

p.I625M

c.1875A>G