Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.L58F

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.L58F
c.172C>T
Surrounding Variants
1 paper
NM_015330.6
p.L59V
c.175T>G
1 paper
NM_015330.6
p.D56G
c.167A>G
1 paper
NM_015330.6
p.D56V
c.167A>T
1 paper
NM_015330.6
p.G61E
c.182G>A
1 paper
NM_015330.6
p.G64A
c.191G>C
2 papers
NM_015330.6
p.T67M
c.200C>T
1 paper
NM_015330.6
p.G71G
c.213T>A
1 paper
NM_015330.6
p.K73R
c.218A>G
1 paper
NM_015330.6
p.S77G
c.229A>G
1 paper
NM_015330.6
p.P80fs
c.238_239fs
1 paper
NM_015330.6
p.S81C
c.242C>G
1 paper
NM_015330.6
p.A83T
c.247G>A
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