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

1 paper

NM_025128.5

p.R472*

c.1414C>T

Surrounding Variants

1 paper

NM_025128.5

p.V471G

c.1412T>G

1 paper

NM_025128.5

p.S470L

c.1409C>T

2 papers

NM_025128.5

p.G484R

c.1450G>A

2 papers

NM_025128.5

p.G484R

c.1450G>C

1 paper

NM_025128.5

p.R496Q

c.1487G>A

1 paper

NM_025128.5

p.R496_Y497insFs

c.1488_1489insC

1 paper

NM_025128.5

p.Y497*

c.1491C>A

1 paper

NM_025128.5

p.Y497*

c.1491C>G

1 paper

NM_025128.5

p.G462V

c.1385G>T

1 paper

NM_025128.5

p.S457R

c.1371T>G

1 paper

NM_025128.5

p.P447R

c.1340C>G

1 paper

NM_025128.5

p.S446C

c.1337C>G