Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.S5R

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.S5R
c.13A>C
Surrounding Variants
1 paper
NM_015330.6
p.S5_S7del3
c.13_20del9
1 paper
NM_015330.6
p.S5R
c.15C>A
1 paper
NM_015330.6
p.A4insFs
c.12dupA
1 paper
NM_015330.6
p.S5R
c.15C>G
1 paper
NM_015330.6
p.K3insFs
c.9dupA
1 paper
NM_015330.6
p.S7R
c.21T>A
1 paper
NM_015330.6
p.K2insFs
c.5dupA
1 paper
NM_015330.6
p.K2_S15ins4
c.4_45dup42
1 paper
NM_015330.6
p.K2_A4del3
c.4_11del9
1 paper
NM_015330.6
p.M1T
c.2T>C
1 paper
NM_015330.6
p.M1insFs
c.3dupG
1 paper
NM_015330.6
p.K2_K3del1
c.5_7delAGA
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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."