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

4 papers

NM_006662.3

p.N2410fs

c.7228_7229fs

Surrounding Variants

1 paper

NM_006662.3

p.N2410fs

c.7228_7229fs

5 papers

NM_006662.3

p.N2410insFs

c.7229dupA

5 papers

NM_006662.3

p.N2410_H2411insFs

c.7230_7231insA

1 paper

NM_006662.3

p.A2409P

c.7225G>C

3 papers

NM_006662.3

p.A2409fs

c.7225_7226fs

1 paper

NM_006662.3

p.T2412fs

c.7234_7235fs

1 paper

NM_006662.3

p.A2409insFs

c.7225dupG

1 paper

NM_006662.3

p.T2412Fs

c.7235delinsGTFs

5 papers

NM_006662.3

p.Q2407fs

c.7219_7220fs

1 paper

NM_006662.3

p.Q2407E

c.7219C>G

9 papers

NM_006662.3

p.Q2407*

c.7219C>T

3 papers

NM_006662.3

p.Q2407fs

c.7219_7220fs