Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.S2371A

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.S2371A
c.7111T>G
Surrounding Variants
1 paper
NM_006662.3
p.S2370I
c.7109G>T
1 paper
NM_006662.3
p.S2370G
c.7108A>G
1 paper
NM_006662.3
p.T2374N
c.7121C>A
1 paper
NM_006662.3
p.G2375G
c.7125T>C
1 paper
NM_006662.3
p.G2377insFs
c.7130_7131ins4
1 paper
NM_006662.3
p.A2366_D2368delFs
c.7096_7102del7
1 paper
NM_006662.3
p.T2378A
c.7132A>G
1 paper
NM_006662.3
p.T2378S
c.7132A>T
1 paper
NM_006662.3
p.T2378fs
c.7132_7133fs
1 paper
NM_006662.3
p.T2378S
c.7133C>G
1 paper
NM_006662.3
p.R2380W
c.7138C>T
1 paper
NM_006662.3
p.R2381C
c.7141C>T
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