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

1–12 of 134 variants

7 papers

NM_025128.5

p.R431H

c.1292G>A

5 papers

NM_025128.5

p.R180P

c.539G>C

5 papers

NM_025128.5

p.D338A

c.1013A>C

5 papers

NM_025128.5

p.D339A

c.1016A>C

4 papers

NM_025128.5

p.R38G

c.112C>G

4 papers

NM_025128.5

p.R279Q

c.836G>A

3 papers

NM_025128.5

p.R37H

c.110G>A

3 papers

NM_025128.5

p.S87A

c.259T>G

3 papers

NM_025128.5

p.A410T

c.1228G>A

2 papers

NM_025128.5

p.R139*

c.415C>T

2 papers

NM_025128.5

p.R139Q

c.416G>A

2 papers

NM_025128.5

p.R139P

c.416G>C