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.I2592insFs

c.7774dupA

Surrounding Variants

1 paper

NM_006662.3

p.E2591*

c.7771G>T

1 paper

NM_006662.3

p.L2593L

c.7777C>T

1 paper

NM_006662.3

p.V2588I

c.7762G>A

1 paper

NM_006662.3

p.S2601C

c.7802C>G

1 paper

NM_006662.3

p.P2604H

c.7811C>A

2 papers

NM_006662.3

p.L2579fs

c.7735_7736fs

4 papers

NM_006662.3

p.L2579delFs

c.7736_7737delTT

1 paper

NM_006662.3

p.L2579fs

c.7735_7736fs

3 papers

NM_006662.3

p.S2578fs

c.7732_7733fs

4 papers

NM_006662.3

p.S2578insFs

c.7732dupT

1 paper

NM_006662.3

p.S2576*

c.7727C>A

1 paper

NM_006662.3

p.S2576*

c.7727C>G