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

1–12 of 746 variants

43 papers

NM_006662.3

p.R2444*

c.7330C>T

32 papers

NM_006662.3

p.R2435*

c.7303C>T

10 papers

NM_006662.3

p.R2329*

c.6985C>T

9 papers

NM_006662.3

p.Q2407*

c.7219C>T

8 papers

NM_006662.3

p.P2439insFs

c.7316dupC

8 papers

NM_006662.3

p.R2748*

c.8242C>T

7 papers

NM_006662.3

p.T2425insFs

c.7274dupC

7 papers

NM_006662.3

p.Q2517delFs

c.7549delC

6 papers

NM_006662.3

p.E1902G

c.5705A>G

6 papers

NM_006662.3

p.E2389*

c.7165G>T

6 papers

NM_006662.3

p.T2406insFs

c.7218dupT

6 papers

NM_006662.3

p.T2425insFs

c.7273dupA