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.Q2620K

c.7858C>A

Surrounding Variants

5 papers

NM_006662.3

p.E2621insFs

c.7863dupG

1 paper

NM_006662.3

p.N2618S

c.7853A>G

5 papers

NM_006662.3

p.N2618insFs

c.7852_7853insC

3 papers

NM_006662.3

p.N2618fs

c.7852_7853fs

1 paper

NM_006662.3

p.N2618fs

c.7852_7853fs

3 papers

NM_006662.3

p.Q2622fs

c.7864_7865fs

1 paper

NM_006662.3

p.Q2622*

c.7864C>T

1 paper

NM_006662.3

p.Q2622H

c.7866G>C

1 paper

NM_006662.3

p.Q2622H

c.7866G>T

2 papers

NM_006662.3

p.P2617insFs

c.7851dupC

1 paper

NM_006662.3

p.L2633fs

c.7897_7898fs

1 paper

NM_006662.3

p.P2604H

c.7811C>A