Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTCL2

Variant:p.D244E

MTCL2

20q11.23 (UCSC)OMIM GTEx

70 papers

Pfam Domains

SOGAaa 142–236UCSCProtein SOGA

SOGAaa 270–359UCSCProtein SOGA

SOGA1-2-like_CCaa 831–884UCSCSOGA 1/2-like, coiled-coil

Gene Aliases

HGNC Name

microtubule crosslinking factor 2

HGNC Previous Symbols

C20orf117; KIAA0889; SOGA1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr20:36839397 G>T

NM_080627.4

p.D244E

c.732C>A

exact variant not in gnomAD8 overlapping SVs

Surrounding Variants

chr20:36839290 C>T

NM_080627.4

p.R280H

c.839G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a8 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."