Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.K531_V532insFs

c.1593_1594insA

Surrounding Variants

1 paper

NM_000251.3

p.E530insFs

c.1588_1589insC

2 papers

NM_000251.3

p.E530fs

c.1588_1589fs

4 papers

NM_000251.3

p.E530*

c.1588G>T

2 papers

NM_000251.3

p.K531delFs

c.1593delA

2 papers

NM_000251.3

p.E530_K531delFs

c.1590_1591delAA

4 papers

NM_000251.3

p.E530fs

c.1588_1589fs

5 papers

NM_000251.3

p.K531_K537del0

c.1591_1611del21

1 paper

NM_000251.3

p.E530A

c.1589A>C

3 papers

NM_000251.3

p.E530G

c.1589A>G

2 papers

NM_000251.3

p.E529_L533Fs

c.1587_1597delinsTFs

1 paper

NM_000251.3

p.E529insFs

c.1586_1587ins19

1 paper

NM_000251.3

p.K531fs

c.1591_1592fs