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.T2512fs

c.7534_7535fs

Surrounding Variants

3 papers

NM_006662.3

p.T2512fs

c.7534_7535fs

5 papers

NM_006662.3

p.T2512insFs

c.7534_7535insAA

1 paper

NM_006662.3

p.H2511Y

c.7531C>T

7 papers

NM_006662.3

p.Q2517delFs

c.7549delC

4 papers

NM_006662.3

p.Q2517fs

c.7549_7550fs

1 paper

NM_006662.3

p.Q2517fs

c.7549_7550fs

2 papers

NM_006662.3

p.C2519*

c.7557T>A

2 papers

NM_006662.3

p.S2524C

c.7571C>G

1 paper

NM_006662.3

p.S2524_S2525delFs

c.7572_7573delCT

1 paper

NM_006662.3

p.P2526fs

c.7576_7577fs

1 paper

NM_006662.3

p.P2497del1

c.7489_7490delCCT

1 paper

NM_006662.3

p.P2492fs

c.7474_7475fs