Varaico: Literature-Extracted Genetic Variants

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.P2001A

c.6001C>G

Surrounding Variants

1 paper

NM_006662.3

p.R2002G

c.6004C>G

1 paper

NM_006662.3

p.F2006delFs

c.6018delC

1 paper

NM_006662.3

p.P1995L

c.5984C>T

1 paper

NM_006662.3

p.Q2007fs

c.6019_6020fs

1 paper

NM_006662.3

p.C1993fs

c.5977_5978fs

1 paper

NM_006662.3

p.C1993_H1994delFs

c.5977_5980del4

1 paper

NM_006662.3

p.P1987_S1989insFs

c.5959_5965dup7

1 paper

NM_006662.3

p.R2019H

c.6056G>A

1 paper

NM_006662.3

p.T2030S

c.6088A>T

1 paper

NM_006662.3

p.T2030S

c.6089C>G

1 paper

NM_006662.3

p.C2042S

c.6124T>A

1 paper

NM_006662.3

p.C2042S

c.6125G>C