Varaico: Literature-Extracted Genetic Variants

MSH3

1,102 papers

RefSeq Summary

The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch ...

Pfam Domains

MutS_Iaa 230–343UCSCMutS domain I

MutS_IIaa 366–523UCSCMutS domain II

MutS_IIIaa 540–838UCSCMutS domain III

MutS_Vaa 892–1094UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 3

HGNC Alias Symbols

DUP; MRP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002439.5

p.R588Splc

c.1764-6T>C

Surrounding Variants

3 papers

NM_002439.5

p.R588Splc

c.1764-2A>G

1 paper

NM_002439.5

p.R588Splc

c.1764-1G>A

1 paper

NM_002439.5

p.E589K

c.1765G>A

6 papers

NM_002439.5

p.I590L

c.1768A>T

1 paper

NM_002439.5

p.A592delFs

c.1774delG

1 paper

NM_002439.5

p.A592_R593insT

c.1774_1778ins3

2 papers

NM_002439.5

p.A592V

c.1775C>T

5 papers

NM_002439.5

p.R593W

c.1777C>T

3 papers

NM_002439.5

p.R593Q

c.1778G>A

1 paper

NM_002439.5

p.R593R

c.1779G>A

1 paper

NM_002439.5

p.A596T

c.1786G>A

2 papers

NM_002439.5

p.S598L

c.1793C>T