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

2 papers

NM_007294.4

p.S1377C

c.4129A>T

Surrounding Variants

6 papers

NM_007294.4

p.S1377fs

c.4129_4130fs

4 papers

NM_007294.4

p.S1377G

c.4129A>G

5 papers

NM_007294.4

p.S1377R

c.4129A>C

1 paper

NM_007294.4

p.S1377_V1378insA

c.4129_4133ins3

2 papers

NM_007294.4

p.T1376delFs

c.4127_4128delTG

2 papers

NM_007294.4

p.S1377N

c.4130G>A

4 papers

NM_007294.4

p.S1377delFs

c.4129delT

7 papers

NM_007294.4

p.T1376_S1377delFs

c.4128_4129delTT

3 papers

NM_007294.4

p.T1376_S1377delFs

c.4126_4129del4

4 papers

NM_007294.4

p.T1376fs

c.4126_4127fs

4 papers

NM_007294.4

p.T1376delFs

c.4127delG

3 papers

NM_007294.4

p.S1377S

c.4131C>T