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

41 papers

NM_007294.4

p.S1722F

c.5165C>T

Surrounding Variants

4 papers

NM_007294.4

p.S1722C

c.5165C>G

11 papers

NM_007294.4

p.S1722Y

c.5165C>A

1 paper

NM_007294.4

p.S1722insFs

c.5165dupC

7 papers

NM_007294.4

p.S1722fs

c.5164_5165fs

3 papers

NM_007294.4

p.S1722A

c.5164T>G

12 papers

NM_007294.4

p.S1722P

c.5164T>C

3 papers

NM_007294.4

p.S1722T

c.5164T>A

8 papers

NM_007294.4

p.Q1721del1

c.5161_5163delCTG

9 papers

NM_007294.4

p.S1722fs

c.5164_5165fs

3 papers

NM_007294.4

p.Q1721_S1722delFs

c.5162_5165del4

1 paper

NM_007294.4

p.Q1721_S1722delFs

c.5161_5165del5

1 paper

NM_007294.4

p.I1723fs

c.5167_5168fs