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.K2261N

c.6783G>T

Surrounding Variants

1 paper

NM_006662.3

p.K2261N

c.6783G>C

1 paper

NM_006662.3

p.K2261*

c.6781A>T

1 paper

NM_006662.3

p.R2255H

c.6764G>A

1 paper

NM_006662.3

p.R2255C

c.6763C>T

1 paper

NM_006662.3

p.D2253fs

c.6757_6758fs

1 paper

NM_006662.3

p.E2251K

c.6751G>A

1 paper

NM_006662.3

p.G2276fs

c.6826_6827fs

1 paper

NM_006662.3

p.A2290T

c.6868G>A

1 paper

NM_006662.3

p.M2295I

c.6885G>A

1 paper

NM_006662.3

p.M2295I

c.6885G>C

1 paper

NM_006662.3

p.M2295I

c.6885G>T

1 paper

NM_006662.3

p.A2304_V2306delFs

c.6910_6916del7