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.R354delFs

c.1060delC

Surrounding Variants

5 papers

NM_006785.4

p.Y353fs

c.1057_1058fs

1 paper

NM_006785.4

p.P357L

c.1070C>T

1 paper

NM_006785.4

p.L347F

c.1041G>C

1 paper

NM_006785.4

p.L347F

c.1041G>T

1 paper

NM_006785.4

p.V344A

c.1031T>C

1 paper

NM_006785.4

p.D342G

c.1025A>G

1 paper

NM_006785.4

p.K341insFs

c.1022_1023insT

1 paper

NM_006785.4

p.A340_K341del1

c.1019_1021delCGA

7 papers

NM_006785.4

p.A340Splc

c.1019-2A>G

1 paper

NM_006785.4

p.E368*

c.1102G>T

1 paper

NM_006785.4

p.D377fs

c.1129_1130fs

1 paper

NM_006785.4

p.D377G

c.1130A>G