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.E1161delFs

c.3481_3482delTC

Surrounding Variants

16 papers

NM_007294.4

p.E1161fs

c.3481_3482fs

10 papers

NM_007294.4

p.D1162fs

c.3484_3485fs

3 papers

NM_007294.4

p.D1162Y

c.3484G>T

1 paper

NM_007294.4

p.D1162_T1163ins4

c.3484_3488ins12

1 paper

NM_007294.4

p.D1162H

c.3484G>C

2 papers

NM_007294.4

p.D1162N

c.3484G>A

2 papers

NM_007294.4

p.E1161G

c.3482A>G

2 papers

NM_007294.4

p.E1161A

c.3482A>C

2 papers

NM_007294.4

p.E1161*

c.3481G>T

3 papers

NM_007294.4

p.E1161K

c.3481G>A

43 papers

NM_007294.4

p.I1159_K1160delFs

c.3477_3480del4

1 paper

NM_007294.4

p.I1159_K1160del2

c.3475_3479del6