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.R1900C

c.5698C>T

Surrounding Variants

1 paper

NM_006662.3

p.E1899*

c.5695G>T

1 paper

NM_006662.3

p.L1901L

c.5703G>A

6 papers

NM_006662.3

p.E1902G

c.5705A>G

1 paper

NM_006662.3

p.H1911P

c.5732A>C

1 paper

NM_006662.3

p.V1917insFs

c.5750_5751insA

1 paper

NM_006662.3

p.Q1930*

c.5788C>T

4 papers

NM_006662.3

p.G1937S

c.5809G>A

1 paper

NM_006662.3

p.R1939H

c.5816G>A

1 paper

NM_006662.3

p.P1941L

c.5822C>T

1 paper

NM_006662.3

p.W1949*

c.5846G>A

1 paper

NM_006662.3

p.W1949*

c.5847G>A

1 paper

NM_006662.3

p.Y1951fs

c.5851_5852fs