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.Q949L

c.2846A>T

Surrounding Variants

26 papers

NM_002439.5

p.Q949R

c.2846A>G

2 papers

NM_002439.5

p.Q949fs

c.2845_2846fs

3 papers

NM_002439.5

p.Q949*

c.2845C>T

1 paper

NM_002439.5

p.G948R

c.2842G>A

1 paper

NM_002439.5

p.G948R

c.2842G>C

2 papers

NM_002439.5

p.G948*

c.2842G>T

1 paper

NM_002439.5

p.Y946S

c.2837A>C

1 paper

NM_002439.5

p.F952C

c.2855T>G

1 paper

NM_002439.5

p.M953L

c.2857A>C

1 paper

NM_002439.5

p.I945M

c.2835A>G

1 paper

NM_002439.5

p.M953L

c.2857A>T

1 paper

NM_002439.5

p.I945T

c.2834T>C