Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.E551D

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
Selected Variant
1 paper
NM_015330.6
p.E551D
c.1653G>T
Surrounding Variants
1 paper
NM_015330.6
p.E551D
c.1653G>C
1 paper
NM_015330.6
p.G554A
c.1661G>C
1 paper
NM_015330.6
p.I547_I548insFs
c.1641_1642insA
3 papers
NM_015330.6
p.R546Q
c.1637G>A
1 paper
NM_015330.6
p.E545K
c.1633G>A
1 paper
NM_015330.6
p.A567T
c.1699G>A
1 paper
NM_015330.6
p.A536T
c.1606G>A
1 paper
NM_015330.6
p.E532Q
c.1594G>C
1 paper
NM_015330.6
p.D526N
c.1576G>A
1 paper
NM_015330.6
p.L579V
c.1735C>G
1 paper
NM_015330.6
p.E524K
c.1570G>A
1 paper
NM_015330.6
p.A523V
c.1568C>T
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."