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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMOD2

Variant:p.A235T

TMOD2

20 papers

RefSeq Summary

This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolym...

Pfam Domains

Tropomodulinaa 5–146UCSCTropomodulin

LRR_TMOD-LMODaa 181–340UCSCTMOD/LMOD Leucine-rich domain

Gene Aliases

HGNC Name

tropomodulin 2

HGNC Alias Symbol

NTMOD

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:51782799 G>A

NM_014548.4

p.A235T

c.703G>A

LRR_TMOD-LMOD

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=6, hom=0)13 overlapping SVs

Surrounding Variants

1 paper

chr15:51782752 C>A

NM_014548.4

p.A219E

c.656C>A

LRR_TMOD-LMOD

exact variant not in gnomAD13 overlapping SVs

1 paper

chr15:51781140 C>T

NM_014548.4

p.P197L

c.590C>T

LRR_TMOD-LMOD

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

1 paper

chr15:51781131 C>G

NM_014548.4

p.A194G

c.581C>G

LRR_TMOD-LMOD

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr15:51776991 A>G

NM_014548.4

p.N156D

c.466A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr15:51776988 A>G

NM_014548.4

p.N155D

c.463A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr15:51776961 A>T

NM_014548.4

p.N146Y

c.436A>T

Tropomodulin

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr15:51773771 C>G

NM_014548.4

p.L115V

c.343C>G

Tropomodulin

exact variant not in gnomAD12 overlapping SVs

1 paper

chr15:51773724 T>G

NM_014548.4

p.I99S

c.296T>G

Tropomodulin

exact variant not in gnomAD12 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."