Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.R2748*

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
8 papers
NM_006662.3
p.R2748*
c.8242C>T
Surrounding Variants
1 paper
NM_006662.3
p.K2745E
c.8233A>G
1 paper
NM_006662.3
p.R2753W
c.8257C>T
1 paper
NM_006662.3
p.P2741R
c.8222C>G
1 paper
NM_006662.3
p.G2734G
c.8202G>A
1 paper
NM_006662.3
p.G2734E
c.8201G>A
1 paper
NM_006662.3
p.V2764G
c.8291T>G
1 paper
NM_006662.3
p.R2767Q
c.8300G>A
1 paper
NM_006662.3
p.A2774S
c.8320G>T
1 paper
NM_006662.3
p.R2721W
c.8161C>T
1 paper
NM_006662.3
p.V2778_P2779del2
c.8332_8336del6
1 paper
NM_006662.3
p.V2778L
c.8332G>C
1 paper
NM_006662.3
p.V2778L
c.8332G>T
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