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

17 papers

NM_007294.4

p.I26T

c.77T>C

Surrounding Variants

3 papers

NM_007294.4

p.I26insFs

c.76_77insA

7 papers

NM_007294.4

p.I26S

c.77T>G

14 papers

NM_007294.4

p.I26N

c.77T>A

2 papers

NM_007294.4

p.I26delFs

c.76delT

1 paper

NM_007294.4

p.P25_I26delFs

c.73_76del4

1 paper

NM_007294.4

p.K20_P25del6

c.58_74del18

4 papers

NM_007294.4

p.I26I

c.78C>T

6 papers

NM_007294.4

p.I26M

c.78C>G

1 paper

NM_007294.4

p.I26insFs

c.77dupT

1 paper

NM_007294.4

p.I26insFs

c.77_78insTA

1 paper

NM_007294.4

p.I26I

c.78C>A

1 paper

NM_007294.4

p.I26fs

c.76_77fs