Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.S2706*

SRCAP

424 papers

RefSeq Summary

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H...

Pfam Domains

HSAaa 127–196UCSCHSA domain
SNF2-rel_domaa 621–906UCSCSNF2-related domain
Helicase_Caa 2043–2156UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

Snf2 related CREBBP activator protein

HGNC Alias Symbols

KIAA0309; SWR1; DOMO1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006662.3
p.S2706*
c.8117C>A
Surrounding Variants
1 paper
NM_006662.3
p.S2706*
c.8117C>G
1 paper
NM_006662.3
p.T2695A
c.8083A>G
1 paper
NM_006662.3
p.E2692Q
c.8074G>C
1 paper
NM_006662.3
p.R2721W
c.8161C>T
1 paper
NM_006662.3
p.Q2691*
c.8071C>T
1 paper
NM_006662.3
p.P2690S
c.8068C>T
2 papers
NM_006662.3
p.K2689*
c.8065A>T
1 paper
NM_006662.3
p.G2734E
c.8201G>A
1 paper
NM_006662.3
p.G2734G
c.8202G>A
1 paper
NM_006662.3
p.T2673I
c.8018C>T
1 paper
NM_006662.3
p.P2741R
c.8222C>G
1 paper
NM_006662.3
p.K2745E
c.8233A>G
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