Varaico: Literature-Extracted Genetic Variants

SMARCAL1

358 papers

RefSeq Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by...

Pfam Domains

HARPaa 248–302UCSCHepA-related protein (HARP)

HARPaa 343–397UCSCHepA-related protein (HARP)

SNF2-rel_domaa 439–709UCSCSNF2-related domain

Helicase_Caa 708–822UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

SNF2 related chromatin remodeling annealing helicase 1

HGNC Alias Symbols

HHARP; HARP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014140.4

p.I755_S761delFs

c.2263_2282del20

Surrounding Variants

7 papers

NM_014140.4

p.I755S

c.2264T>G

1 paper

NM_014140.4

p.H749Q

c.2247C>G

1 paper

NM_014140.4

p.T759I

c.2276C>T

1 paper

NM_014140.4

p.S761delFs

c.2281delT

1 paper

NM_014140.4

p.S761fs

c.2281_2282fs

1 paper

NM_014140.4

p.S761delFs

c.2283delA

4 papers

NM_014140.4

p.R764W

c.2290C>T

33 papers

NM_014140.4

p.R764Q

c.2291G>A

1 paper

NM_014140.4

p.L767L

c.2301G>A

2 papers

NM_014140.4

p.Q770*

c.2308C>T

1 paper

NM_014140.4

p.L773fs

c.2317_2318fs

7 papers

NM_014140.4

p.S774*

c.2321C>A