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

3 papers

NM_006662.3

p.K2386R

c.7157A>G

Surrounding Variants

6 papers

NM_006662.3

p.E2389*

c.7165G>T

1 paper

NM_006662.3

p.S2382C

c.7144A>T

1 paper

NM_006662.3

p.R2381H

c.7142G>A

1 paper

NM_006662.3

p.R2381C

c.7141C>T

1 paper

NM_006662.3

p.R2380W

c.7138C>T

1 paper

NM_006662.3

p.T2378S

c.7133C>G

1 paper

NM_006662.3

p.T2378A

c.7132A>G

1 paper

NM_006662.3

p.T2378S

c.7132A>T

1 paper

NM_006662.3

p.T2378fs

c.7132_7133fs

1 paper

NM_006662.3

p.G2377insFs

c.7130_7131ins4

2 papers

NM_006662.3

p.E2397*

c.7189G>T

1 paper

NM_006662.3

p.G2375G

c.7125T>C