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.E806Q

c.2416G>C

Surrounding Variants

3 papers

NM_006785.4

p.E806A

c.2417A>C

6 papers

NM_006785.4

p.E806D

c.2418G>C

6 papers

NM_006785.4

p.E806D

c.2418G>T

1 paper

NM_006785.4

p.V805I

c.2413G>A

1 paper

NM_006785.4

p.F813delFs

c.2439delT

1 paper

NM_006785.4

p.D817H

c.2449G>C

1 paper

NM_006785.4

p.A794T

c.2380G>A

1 paper

NM_006785.4

p.H793fs

c.2377_2378fs

1 paper

NM_006785.4

p.H793_V805delFs

c.2377_2414del38

1 paper

NM_006785.4

p.A791V

c.2372C>T

1 paper

NM_006785.4

p.D784insFs

c.2351_2352insCC

1 paper

NM_006785.4

p.T782I

c.2345C>T