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

4 papers

NM_006785.4

p.N485S

c.1454A>G

Surrounding Variants

1 paper

NM_006785.4

p.V487M

c.1459G>A

1 paper

NM_006785.4

p.K481N

c.1443A>C

1 paper

NM_006785.4

p.K481N

c.1443A>T

1 paper

NM_006785.4

p.G489R

c.1465G>A

1 paper

NM_006785.4

p.G489R

c.1465G>C

1 paper

NM_006785.4

p.K481R

c.1442A>G

1 paper

NM_006785.4

p.L480P

c.1439T>C

1 paper

NM_006785.4

p.L480fs

c.1438_1439fs

1 paper

NM_006785.4

p.A491T

c.1471G>A

1 paper

NM_006785.4

p.L480_K481delFs

c.1438_1442del5

1 paper

NM_006785.4

p.T492M

c.1475C>T

1 paper

NM_006785.4

p.P475Q

c.1424C>A