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.S1125_N1132del8

c.3373_3395del24

Surrounding Variants

8 papers

NM_007294.4

p.L1133*

c.3398T>G

2 papers

NM_007294.4

p.L1133S

c.3398T>C

8 papers

NM_007294.4

p.L1133*

c.3398T>A

1 paper

NM_007294.4

p.L1133_E1134ins4

c.3397_3401ins12

1 paper

NM_007294.4

p.N1132delFs

c.3396delG

2 papers

NM_007294.4

p.L1133fs

c.3397_3398fs

4 papers

NM_007294.4

p.L1133delFs

c.3398delA

4 papers

NM_007294.4

p.L1133fs

c.3397_3398fs

9 papers

NM_007294.4

p.L1133delFs

c.3397_3398delAA

46 papers

NM_007294.4

p.E1134*

c.3400G>T

1 paper

NM_007294.4

p.E1134Q

c.3400G>C

5 papers

NM_007294.4

p.E1134K

c.3400G>A