Varaico: Literature-Extracted Genetic Variants

PBRM1

847 papers

RefSeq Summary

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcription...

Pfam Domains

Bromodomainaa 54–139UCSCBromodomain

Bromodomainaa 186–275UCSCBromodomain

Bromodomainaa 392–475UCSCBromodomain

Bromodomainaa 537–613UCSCBromodomain

Bromodomainaa 666–751UCSCBromodomain

Bromodomainaa 786–867UCSCBromodomain

Gene Aliases

HGNC Name

polybromo 1

HGNC Alias Symbols

BAF180; PB1; SMARCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001405607.1

p.D391insFs

c.1171_1172insAC

Surrounding Variants

1 paper

NM_001405607.1

p.Y390F

c.1169A>T

1 paper

NM_001405607.1

p.D381_L389delFs

c.1142_1167del26

2 papers

NM_001405607.1

p.V393_R394insA

c.1177_1181ins3

2 papers

NM_001405607.1

p.V393fs

c.1177_1178fs

3 papers

NM_001405607.1

p.Q388*

c.1162C>T

1 paper

NM_001405607.1

p.Y387fs

c.1159_1160fs

1 paper

NM_001405607.1

p.Y387*

c.1161T>G

1 paper

NM_001405607.1

p.R394K

c.1181G>A

1 paper

NM_001405607.1

p.Y387insFs

c.1159_1160insT

1 paper

NM_001405607.1

p.S395fs

c.1183_1184fs

1 paper

NM_001405607.1

p.F386fs

c.1156_1157fs

1 paper

NM_001405607.1

p.S395N

c.1184G>A