Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.T397P

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
10 papers
NM_015330.6
p.T397P
c.1189A>C
Surrounding Variants
4 papers
NM_015330.6
p.R399G
c.1195C>G
1 paper
NM_015330.6
p.I400_H401del0
c.1198_1203del6
1 paper
NM_015330.6
p.A394P
c.1180G>C
1 paper
NM_015330.6
p.V393A
c.1178T>C
1 paper
NM_015330.6
p.M403V
c.1207A>G
1 paper
NM_015330.6
p.E390V
c.1169A>T
1 paper
NM_015330.6
p.E390K
c.1168G>A
1 paper
NM_015330.6
p.N387ins1
c.1160_1161insTTT
1 paper
NM_015330.6
p.Q407P
c.1220A>C
1 paper
NM_015330.6
p.G386R
c.1156G>A
1 paper
NM_015330.6
p.G386R
c.1156G>C
1 paper
NM_015330.6
p.S411T
c.1232G>C
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