Varaico: Literature-Extracted Genetic Variants

MYBBP1A

169 papers

RefSeq Summary

This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role i...

Pfam Domains

DNA_pol_phiaa 72–836UCSCDNA polymerase phi

TPR_Mybbp1aaa 957–1193UCSCMyb-binding protein 1A-like, TPR repeats

Gene Aliases

HGNC Name

MYB binding protein 1a

HGNC Alias Symbols

P160; PAP2; FLJ37886; Pol5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014520.4

p.A191V

c.572C>T

Surrounding Variants

1 paper

NM_014520.4

p.A203V

c.608C>T

1 paper

NM_014520.4

p.L209F

c.625C>T

1 paper

NM_014520.4

p.L247_N249del0

c.740_745del6

1 paper

NM_014520.4

p.A254T

c.760G>A

1 paper

NM_014520.4

p.R262C

c.784C>T

1 paper

NM_014520.4

p.L264_P265insFs

c.792_793insG

1 paper

NM_014520.4

p.R273C

c.817C>T

1 paper

NM_014520.4

p.R273fs

c.817_818fs

1 paper

NM_014520.4

p.A275A

c.825A>G

1 paper

NM_014520.4

p.R273_L276delFs

c.818_827del10

1 paper

NM_014520.4

p.K277N

c.831G>T

1 paper

NM_014520.4

p.K277N

c.831G>C