Varaico: Literature-Extracted Genetic Variants

Gene:SFSWAP
Variant:p.A880T

SFSWAP

52 papers

RefSeq Summary

This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the ...

Pfam Domains

DRY_EERYaa 34–156UCSCAlternative splicing regulator
Surpaa 209–259UCSCSurp module
Surpaa 458–504UCSCSurp module

Gene Aliases

HGNC Name

splicing factor SWAP

HGNC Previous Symbol

SFRS8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004592.4
p.A880T
c.2638G>A
Surrounding Variants
1 paper
NM_004592.4
p.P882L
c.2645C>T
1 paper
NM_004592.4
p.A887E
c.2660C>A
1 paper
NM_004592.4
p.A887A
c.2661G>A
1 paper
NM_004592.4
p.P894H
c.2681C>A
1 paper
NM_004592.4
p.S901_Q902ins0
c.2701_2706dup6
1 paper
NM_004592.4
p.S901_Q902del2
c.2701_2705del6
1 paper
NM_004592.4
p.S901_Q902del1
c.2702_2704delGCC
1 paper
NM_004592.4
p.R904H
c.2711G>A
2 papers
NM_004592.4
p.R906S
c.2718G>C
2 papers
NM_004592.4
p.R906S
c.2718G>T
2 papers
NM_004592.4
p.R906S
c.2718G>T
1 paper
NM_004592.4
p.D931G
c.2792A>G
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