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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMOD1

Variant:p.E307delFs

TMOD1

41 papers

RefSeq Summary

This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongati...

Pfam Domains

Tropomodulinaa 3–143UCSCTropomodulin

LRR_TMOD-LMODaa 179–338UCSCTMOD/LMOD Leucine-rich domain

Gene Aliases

HGNC Name

tropomodulin 1

HGNC Previous Symbol

D9S57E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr9:97591339 GA>G

NM_003275.4

p.E307delFs

c.920delA

LRR_TMOD-LMOD

Exome: n/aGenome: 0.0% (AC=1, hom=0)16 overlapping SVs

Surrounding Variants

1 paper

chr9:97591339 G>GN

NM_003275.4

p.E307fs

c.919_920fs

LRR_TMOD-LMOD

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:97591345 A>AN

NM_003275.4

p.N309fs

c.925_926fs

LRR_TMOD-LMOD

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:97591345 AAC>N

NM_003275.4

p.N309fs

c.925_926fs

LRR_TMOD-LMOD

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:97591411 G>A

NM_003275.4

p.A331T

c.991G>A

LRR_TMOD-LMOD

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

1 paper

chr9:97599582 C>T

NM_003275.4

p.V339Splc

c.1016-52C>T

Exome: 64.1% (AC=933176, hom=300816)Genome: 67.2% (AC=102189, hom=34844)17 overlapping SVs

2 papers

chr9:97599642 A>G

NM_003275.4

p.R342G

c.1024A>G

exact variant not in gnomAD17 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."