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.R58L

c.173G>T

Surrounding Variants

1 paper

NM_025128.5

p.G60A

c.179G>C

1 paper

NM_025128.5

p.K61M

c.182A>T

1 paper

NM_025128.5

p.P54A

c.160C>G

1 paper

NM_025128.5

p.A63G

c.188C>G

1 paper

NM_025128.5

p.K64N

c.192G>C

1 paper

NM_025128.5

p.K64N

c.192G>T

1 paper

NM_025128.5

p.L47P

c.140T>C

1 paper

NM_025128.5

p.G70*

c.208G>T

1 paper

NM_025128.5

p.C74Y

c.221G>A

1 paper

NM_025128.5

p.R75insFs

c.224_225insA

3 papers

NM_025128.5

p.S87A

c.259T>G

1 paper

NM_025128.5

p.G89Splc

c.265+1G>A