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.V381L

c.1141G>C

Surrounding Variants

2 papers

NM_006785.4

p.V381F

c.1141G>T

1 paper

NM_006785.4

p.L383L

c.1147C>T

1 paper

NM_006785.4

p.L383R

c.1148T>G

1 paper

NM_006785.4

p.F378C

c.1133T>G

1 paper

NM_006785.4

p.D377G

c.1130A>G

1 paper

NM_006785.4

p.D377fs

c.1129_1130fs

2 papers

NM_006785.4

p.L386P

c.1157T>C

1 paper

NM_006785.4

p.E388G

c.1163A>G

1 paper

NM_006785.4

p.M391V

c.1171A>G

1 paper

NM_006785.4

p.R392C

c.1174C>T

1 paper

NM_006785.4

p.E368*

c.1102G>T

1 paper

NM_006785.4

p.A394D

c.1181C>A