Varaico: Literature-Extracted Genetic Variants

MUS81

131 papers

RefSeq Summary

This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair afte...

Pfam Domains

HHH_8aa 16–86UCSCHelix-hairpin-helix domain

WHD_MUS81aa 132–216UCSCCrossover junction endonuclease MUS81-like, winged helix domain

ERCC4aa 273–415UCSCERCC4 domain

EME1-MUS81_Caa 474–541UCSCEME1/MUS81, C-terminal

Gene Aliases

HGNC Name

MUS81 structure-specific endonuclease subunit

HGNC Alias Symbols

FLJ44872; SLX3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_025128.5

p.R139P

c.416G>C

Surrounding Variants

2 papers

NM_025128.5

p.R139Q

c.416G>A

1 paper

NM_025128.5

p.R139G

c.415C>G

2 papers

NM_025128.5

p.R139*

c.415C>T

1 paper

NM_025128.5

p.W131*

c.393G>A

1 paper

NM_025128.5

p.W131*

c.392G>A

1 paper

NM_025128.5

p.E148K

c.442G>A

1 paper

NM_025128.5

p.H149H

c.447C>T

1 paper

NM_025128.5

p.G125V

c.374G>T

1 paper

NM_025128.5

p.K123R

c.368A>G

1 paper

NM_025128.5

p.N151fs

c.451_452fs

1 paper

NM_025128.5

p.E161*

c.481G>T

1 paper

NM_025128.5

p.P172S

c.514C>T