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.R3118C

c.9352C>T

Surrounding Variants

1 paper

NM_006662.3

p.S3119L

c.9356C>T

2 papers

NM_006662.3

p.R3121W

c.9361C>T

1 paper

NM_006662.3

p.L3122delFs

c.9364delC

1 paper

NM_006662.3

p.P3115delFs

c.9344delC

1 paper

NM_006662.3

p.L3113fs

c.9337_9338fs

1 paper

NM_006662.3

p.R3123H

c.9368G>A

2 papers

NM_006662.3

p.L3113_T3114delFs

c.9338_9341del4

1 paper

NM_006662.3

p.P3124A

c.9370C>G

1 paper

NM_006662.3

p.P3109S

c.9325C>T

1 paper

NM_006662.3

p.V3128insFs

c.9384dupC

1 paper

NM_006662.3

p.E3105delins

c.9314delinsT

1 paper

NM_006662.3

p.L3131fs

c.9391_9392fs