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.T2673I

c.8018C>T

Surrounding Variants

3 papers

NM_006662.3

p.D2661N

c.7981G>A

1 paper

NM_006662.3

p.D2661H

c.7981G>C

2 papers

NM_006662.3

p.K2689*

c.8065A>T

1 paper

NM_006662.3

p.P2690S

c.8068C>T

1 paper

NM_006662.3

p.P2656delFs

c.7968delC

1 paper

NM_006662.3

p.Q2691*

c.8071C>T

1 paper

NM_006662.3

p.E2692Q

c.8074G>C

1 paper

NM_006662.3

p.T2695A

c.8083A>G

1 paper

NM_006662.3

p.E2648_S2649insCA

c.7942_7946ins6

1 paper

NM_006662.3

p.V2646fs

c.7936_7937fs

1 paper

NM_006662.3

p.V2646delFs

c.7937_7938delTG

1 paper

NM_006662.3

p.L2642F

c.7926G>C