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.P3162A

c.9484C>G

Surrounding Variants

1 paper

NM_006662.3

p.S3161G

c.9481A>G

1 paper

NM_006662.3

p.L3163V

c.9487C>G

1 paper

NM_006662.3

p.S3148R

c.9444T>A

1 paper

NM_006662.3

p.S3148S

c.9444T>C

1 paper

NM_006662.3

p.S3148R

c.9444T>G

1 paper

NM_006662.3

p.S3148R

c.9442A>C

1 paper

NM_006662.3

p.R3138H

c.9413G>A

2 papers

NM_006662.3

p.R3189*

c.9565C>T

1 paper

NM_006662.3

p.L3131fs

c.9391_9392fs

1 paper

NM_006662.3

p.R3195Q

c.9584G>A

1 paper

NM_006662.3

p.V3128insFs

c.9384dupC

1 paper

NM_006662.3

p.G3198G

c.9594G>A