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

5 papers

NM_006662.3

p.Q2334*

c.7000C>T

Surrounding Variants

2 papers

NM_006662.3

p.Q2334H

c.7002G>C

2 papers

NM_006662.3

p.Q2334H

c.7002G>T

10 papers

NM_006662.3

p.R2329*

c.6985C>T

1 paper

NM_006662.3

p.I2312insFs

c.6935dupT

1 paper

NM_006662.3

p.Q2308_L2309Splc

c.6925-1G>A

1 paper

NM_006662.3

p.Q2308_L2309Splc

c.6925-22T>C

1 paper

NM_006662.3

p.V2306_E2307insCTG

c.6916_6920ins9

1 paper

NM_006662.3

p.A2304_V2306delFs

c.6910_6916del7

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.A2290T

c.6868G>A