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

5 papers

NM_006662.3

p.S2489*

c.7466C>G

Surrounding Variants

5 papers

NM_006662.3

p.S2489*

c.7466C>A

1 paper

NM_006662.3

p.I2491delFs

c.7472delT

1 paper

NM_006662.3

p.P2487T

c.7459C>A

1 paper

NM_006662.3

p.P2492fs

c.7474_7475fs

1 paper

NM_006662.3

p.P2497del1

c.7489_7490delCCT

1 paper

NM_006662.3

p.L2477I

c.7429C>A

1 paper

NM_006662.3

p.I2468fs

c.7402_7403fs

1 paper

NM_006662.3

p.H2511Y

c.7531C>T

5 papers

NM_006662.3

p.T2512insFs

c.7534_7535insAA

3 papers

NM_006662.3

p.T2512fs

c.7534_7535fs

2 papers

NM_006662.3

p.P2467delFs

c.7401delC

1 paper

NM_006662.3

p.T2512fs

c.7534_7535fs