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

3 papers

NM_007294.4

p.S1386fs

c.4156_4157fs

Surrounding Variants

1 paper

NM_007294.4

p.S1386_S1387insG

c.4156_4160ins3

4 papers

NM_007294.4

p.C1382_L1385insFs

c.4146_4155dup10

3 papers

NM_007294.4

p.S1386F

c.4157C>T

1 paper

NM_007294.4

p.S1386C

c.4157C>G

2 papers

NM_007294.4

p.L1385L

c.4155A>G

1 paper

NM_007294.4

p.L1385L

c.4155A>C

1 paper

NM_007294.4

p.L1385_S1386insFs

c.4155_4156ins10

1 paper

NM_007294.4

p.L1385delFs

c.4153_4154delAG

1 paper

NM_007294.4

p.L1385R

c.4154T>G

3 papers

NM_007294.4

p.L1385P

c.4154T>C

3 papers

NM_007294.4

p.L1385delFs

c.4153delG

1 paper

NM_007294.4

p.G1384_L1385delFs

c.4152_4153delGC