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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPECC1L

Variant:p.R1098Q

SPECC1L

113 papers

RefSeq Summary

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a c...

Pfam Domains

CHaa 1011–1117UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

sperm antigen with calponin homology and coiled-coil domains 1 like

HGNC Previous Symbol

CYTSA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

6 papers

chr22:24414562 G>A

NM_015330.6

p.R1098Q

c.3293G>A

exact variant not in gnomAD5 overlapping SVs

Surrounding Variants

1 paper

chr22:24412695 C>G

NM_015330.6

p.I1084M

c.3252C>G

exact variant not in gnomAD5 overlapping SVs

10 papers

chr22:24412690 G>A

NM_015330.6

p.G1083S

c.3247G>A

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)5 overlapping SVs

1 paper

chr22:24411645 C>T

NM_015330.6

p.L1049F

c.3145C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr22:24411634 CCTT>C

NM_015330.6

p.F1046del1

c.3136_3137delTTC

exact variant not in gnomAD5 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."