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.T2992I

c.8975C>T

Surrounding Variants

2 papers

NM_006662.3

p.T2995_I2998del0

c.8984_8992del9

1 paper

NM_006662.3

p.T2995S

c.8983A>T

1 paper

NM_006662.3

p.T2995S

c.8984C>G

1 paper

NM_006662.3

p.T2997del1

c.8989_8990delACC

1 paper

NM_006662.3

p.T3000M

c.8999C>T

1 paper

NM_006662.3

p.K3006N

c.9018G>C

1 paper

NM_006662.3

p.K3006N

c.9018G>T

1 paper

NM_006662.3

p.R3009R

c.9027A>G

1 paper

NM_006662.3

p.S2973delFs

c.8919delA

1 paper

NM_006662.3

p.R2965W

c.8893C>T

1 paper

NM_006662.3

p.S2964N

c.8891G>A

1 paper

NM_006662.3

p.V3024_D3026del3

c.9070_9077del9