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.Q3202H

c.9606A>C

Surrounding Variants

1 paper

NM_006662.3

p.Q3202H

c.9606A>T

1 paper

NM_006662.3

p.T3200A

c.9598A>G

1 paper

NM_006662.3

p.Q3205_L3208del0

c.9615_9623del9

1 paper

NM_006662.3

p.R3206H

c.9617G>A

1 paper

NM_006662.3

p.G3198G

c.9594G>A

1 paper

NM_006662.3

p.R3195Q

c.9584G>A

1 paper

NM_006662.3

p.P3213H

c.9638C>A

2 papers

NM_006662.3

p.R3189*

c.9565C>T

1 paper

NM_006662.3

p.A3220V

c.9659C>T

1 paper

NM_006662.3

p.R3224*

c.9670A>T

1 paper

NM_006662.3

p.R3226delFs

c.9678delC

1 paper

NM_006662.3

p.K3227fs

c.9679_9680fs