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.L375L

c.1125A>G

Surrounding Variants

1 paper

NM_007294.4

p.L375delFs

c.1123delG

5 papers

NM_007294.4

p.L375Fs

c.1123_1124delinsAFs

1 paper

NM_007294.4

p.T374_L375delFs

c.1122_1123delGT

7 papers

NM_007294.4

p.N376fs

c.1126_1127fs

2 papers

NM_007294.4

p.N376D

c.1126A>G

1 paper

NM_007294.4

p.N376_S377insTAT

c.1126_1130ins9

1 paper

NM_007294.4

p.L375delFs

c.1124_1125delTA

5 papers

NM_007294.4

p.L375L

c.1123C>T

2 papers

NM_007294.4

p.L375_N376insT

c.1123_1127ins3

1 paper

NM_007294.4

p.L375_N376insGTC

c.1123_1127ins9

1 paper

NM_007294.4

p.L375I

c.1123C>A

6 papers

NM_007294.4

p.T374_L375Fs

c.1121_1123delinsTFs