Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.E628K

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.E628K
c.1882G>A
Surrounding Variants
1 paper
NM_015330.6
p.S624N
c.1871G>A
1 paper
NM_015330.6
p.R634Q
c.1901G>A
1 paper
NM_015330.6
p.A619P
c.1855G>C
1 paper
NM_015330.6
p.N638S
c.1913A>G
1 paper
NM_015330.6
p.Q641*
c.1921C>T
1 paper
NM_015330.6
p.Q641Q
c.1923G>A
1 paper
NM_015330.6
p.L609M
c.1825C>A
1 paper
NM_015330.6
p.D601H
c.1801G>C
1 paper
NM_015330.6
p.L579V
c.1735C>G
1 paper
NM_015330.6
p.A567T
c.1699G>A
1 paper
NM_015330.6
p.G554A
c.1661G>C
1 paper
NM_015330.6
p.E551D
c.1653G>C
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