Varaico: Literature-Extracted Genetic Variants

Gene:SCIN
Variant:p.M1I

SCIN

69 papers

RefSeq Summary

SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010].

Pfam Domains

Gelsolinaa 26–108UCSCGelsolin repeat
Gelsolinaa 146–221UCSCGelsolin repeat
Gelsolinaa 263–341UCSCGelsolin repeat
Gelsolinaa 406–483UCSCGelsolin repeat
Gelsolinaa 521–590UCSCGelsolin repeat
Gelsolinaa 626–704UCSCGelsolin repeat

Gene Aliases

HGNC Name

scinderin

HGNC Alias Symbol

KIAA1905

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001112706.3
p.M1I
c.3G>T
Surrounding Variants
1 paper
NM_001112706.3
p.M1I
c.3G>A
1 paper
NM_001112706.3
p.M1I
c.3G>C
1 paper
NM_001112706.3
p.E9A
c.26A>C
1 paper
NM_001112706.3
p.R12W
c.34C>T
1 paper
NM_001112706.3
p.A13V
c.38C>T
2 papers
NM_001112706.3
p.Q16P
c.47A>C
1 paper
NM_001112706.3
p.L19P
c.56T>C
1 paper
NM_001112706.3
p.E25Q
c.73G>C
2 papers
NM_001112706.3
p.Q34P
c.101A>C
1 paper
NM_001112706.3
p.S35_Y46del0
c.103_138del36
1 paper
NM_001112706.3
p.S35_F40del0
c.105_119del15
1 paper
NM_001112706.3
p.A36del1
c.106_108delGCT
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