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

5 papers

NM_007294.4

p.T1677P

c.5029A>C

Surrounding Variants

37 papers

NM_007294.4

p.T1677fs

c.5029_5030fs

5 papers

NM_007294.4

p.T1677S

c.5029A>T

7 papers

NM_007294.4

p.T1677A

c.5029A>G

5 papers

NM_007294.4

p.T1677I

c.5030C>T

5 papers

NM_007294.4

p.T1677S

c.5030C>G

1 paper

NM_007294.4

p.T1677insFs

c.5029dupA

5 papers

NM_007294.4

p.T1677N

c.5030C>A

1 paper

NM_007294.4

p.L1676_T1677delFs

c.5026_5029del4

1 paper

NM_007294.4

p.R1670_L1676del7

c.5008_5027del21

8 papers

NM_007294.4

p.L1676F

c.5028A>T

8 papers

NM_007294.4

p.L1676F

c.5028A>C

3 papers

NM_007294.4

p.L1676insFs

c.5027dupT