Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.L510F

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.L510F
c.1528C>T
Surrounding Variants
1 paper
NM_015330.6
p.R506Q
c.1517G>A
1 paper
NM_015330.6
p.A502V
c.1505C>T
1 paper
NM_015330.6
p.A523V
c.1568C>T
1 paper
NM_015330.6
p.E524K
c.1570G>A
1 paper
NM_015330.6
p.D526N
c.1576G>A
1 paper
NM_015330.6
p.Q493*
c.1477C>T
1 paper
NM_015330.6
p.E532Q
c.1594G>C
4 papers
NM_015330.6
p.R487H
c.1460G>A
1 paper
NM_015330.6
p.R487C
c.1459C>T
1 paper
NM_015330.6
p.A536T
c.1606G>A
1 paper
NM_015330.6
p.I479L
c.1435A>C
1 paper
NM_015330.6
p.E545K
c.1633G>A
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