Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.A68_G71del4

SMC1A

576 papers

RefSeq Summary

Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This...

Pfam Domains

SMC_Naa 3–1211UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 512–629UCSCSMC proteins Flexible Hinge Domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 1A

HGNC Previous Symbol

SMC1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006306.4
p.A68_G71del4
c.202_212del12
Surrounding Variants
1 paper
NM_006306.4
p.P73S
c.217C>T
1 paper
NM_006306.4
p.P69S
c.205C>T
1 paper
NM_006306.4
p.A68V
c.203C>T
1 paper
NM_006306.4
p.N76N
c.228C>T
1 paper
NM_006306.4
p.N76K
c.228C>A
2 papers
NM_006306.4
p.H66Q
c.198T>G
2 papers
NM_006306.4
p.H66Q
c.198T>A
1 paper
NM_006306.4
p.R77Q
c.230G>A
2 papers
NM_006306.4
p.H66R
c.197A>G
1 paper
NM_006306.4
p.R77_A78delFs
c.231_232delCC
1 paper
NM_006306.4
p.I65S
c.194T>G
1 paper
NM_006306.4
p.F79V
c.235T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."