Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L

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
RefSeq ID
Protein change
DNA change
1–12 of 317 variants
11 papers
NM_015330.6
p.Q415P
c.1244A>C
10 papers
NM_015330.6
p.T397P
c.1189A>C
10 papers
NM_015330.6
p.G1083S
c.3247G>A
6 papers
NM_015330.6
p.R1098Q
c.3293G>A
5 papers
NM_015330.6
p.T417P
c.1249A>C
5 papers
NM_015330.6
p.E420K
c.1258G>A
5 papers
NM_015330.6
p.R461Q
c.1382G>A
4 papers
NM_015330.6
p.E29V
c.86A>T
4 papers
NM_015330.6
p.A86T
c.256G>A
4 papers
NM_015330.6
p.I100N
c.299T>A
4 papers
NM_015330.6
p.T299A
c.895A>G
4 papers
NM_015330.6
p.R399G
c.1195C>G
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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."