Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007294.4

p.K1727_M1728delFs

c.5181_5182delTT

Surrounding Variants

1 paper

NM_007294.4

p.M1728insFs

c.5183_5184insC

1 paper

NM_007294.4

p.M1728insFs

c.5182dupA

5 papers

NM_007294.4

p.M1728R

c.5183T>G

5 papers

NM_007294.4

p.M1728T

c.5183T>C

4 papers

NM_007294.4

p.M1728K

c.5183T>A

4 papers

NM_007294.4

p.M1728delFs

c.5182delT

2 papers

NM_007294.4

p.R1726_K1727del2

c.5176_5180del6

4 papers

NM_007294.4

p.M1728I

c.5184G>T

1 paper

NM_007294.4

p.M1728fs

c.5182_5183fs

1 paper

NM_007294.4

p.M1728_L1729insFs

c.5184_5185insA

4 papers

NM_007294.4

p.M1728I

c.5184G>C

4 papers

NM_007294.4

p.M1728I

c.5184G>A