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.S3050N

c.9149G>A

Surrounding Variants

1 paper

NM_006662.3

p.R3042insFs

c.9125dupG

1 paper

NM_006662.3

p.R3042fs

c.9124_9125fs

1 paper

NM_006662.3

p.L3066_L3069del4

c.9196_9206del12

1 paper

NM_006662.3

p.R3070W

c.9208C>T

1 paper

NM_006662.3

p.G3075E

c.9224G>A

1 paper

NM_006662.3

p.R3077R

c.9229C>A

1 paper

NM_006662.3

p.V3024_D3026del3

c.9070_9077del9

1 paper

NM_006662.3

p.R3077Q

c.9230G>A

1 paper

NM_006662.3

p.R3079W

c.9235C>T

1 paper

NM_006662.3

p.S3081C

c.9241A>T

1 paper

NM_006662.3

p.G3083E

c.9248G>A

1 paper

NM_006662.3

p.V3087A

c.9260T>C