Varaico: Literature-Extracted Genetic Variants

PWWP3B

39 papers

RefSeq Summary

This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple al...

Pfam Domains

PWP3A-B_Naa 5–99UCSCPWWP domain-containing DNA repair factor 3A/B, N-terminal

MUM1-like_PWWPaa 390–469UCSCMUM1-like, PWWP domain

PWP3A-B_Caa 498–689UCSCPWWP domain-containing DNA repair factor 3A/B, C-terminal

Gene Aliases

HGNC Name

PWWP domain containing 3B

HGNC Previous Symbol

MUM1L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001171020.2

p.Q125H

c.375G>C

Surrounding Variants

1 paper

NM_001171020.2

p.Q125H

c.375G>T

1 paper

NM_001171020.2

p.R135Q

c.404G>A

1 paper

NM_001171020.2

p.E138*

c.412G>T

1 paper

NM_001171020.2

p.D110Y

c.328G>T

1 paper

NM_001171020.2

p.A106delFs

c.316delG

1 paper

NM_001171020.2

p.G95D

c.284G>A

1 paper

NM_001171020.2

p.A93E

c.278C>A

1 paper

NM_001171020.2

p.P79L

c.236C>T

1 paper

NM_001171020.2

p.E75E

c.225G>A

1 paper

NM_001171020.2

p.C193C

c.579C>T

1 paper

NM_001171020.2

p.K30N

c.90G>C

1 paper

NM_001171020.2

p.K30N

c.90G>T