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

8 papers

NM_006662.3

p.P2439insFs

c.7316dupC

Surrounding Variants

6 papers

NM_006662.3

p.A2440fs

c.7318_7319fs

1 paper

NM_006662.3

p.V2436F

c.7306G>T

32 papers

NM_006662.3

p.R2435*

c.7303C>T

2 papers

NM_006662.3

p.R2435fs

c.7303_7304fs

1 paper

NM_006662.3

p.R2435_V2436delFs

c.7304_7308del5

1 paper

NM_006662.3

p.R2435insFs

c.7303dupC

1 paper

NM_006662.3

p.E2434insFs

c.7300_7301insA

2 papers

NM_006662.3

p.E2434*

c.7300G>T

43 papers

NM_006662.3

p.R2444*

c.7330C>T

1 paper

NM_006662.3

p.R2444Q

c.7331G>A

1 paper

NM_006662.3

p.C2429*

c.7287C>A

1 paper

NM_006662.3

p.C2429fs

c.7285_7286fs