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.D2878Y

c.8632G>T

Surrounding Variants

1 paper

NM_006662.3

p.A2880G

c.8639C>G

1 paper

NM_006662.3

p.R2875_S2882delFs

c.8625_8646del22

1 paper

NM_006662.3

p.R2875fs

c.8623_8624fs

2 papers

NM_006662.3

p.P2881A

c.8641C>G

1 paper

NM_006662.3

p.R2862S

c.8586G>C

1 paper

NM_006662.3

p.R2862S

c.8586G>T

1 paper

NM_006662.3

p.R2862M

c.8585G>T

1 paper

NM_006662.3

p.V2895V

c.8685C>T

2 papers

NM_006662.3

p.G2844A

c.8531G>C

1 paper

NM_006662.3

p.E2842A

c.8525A>C

1 paper

NM_006662.3

p.P2916L

c.8747C>T

1 paper

NM_006662.3

p.Q2917*

c.8749C>T