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.Q324delFs

c.970delC

Surrounding Variants

11 papers

NM_000251.3

p.Q324delFs

c.970_971delCA

4 papers

NM_000251.3

p.S323Y

c.968C>A

1 paper

NM_000251.3

p.Q324K

c.970C>A

1 paper

NM_000251.3

p.Q324insFs

c.971dupA

6 papers

NM_000251.3

p.Q324fs

c.970_971fs

9 papers

NM_000251.3

p.S323C

c.968C>G

2 papers

NM_000251.3

p.Q324E

c.970C>G

21 papers

NM_000251.3

p.Q324*

c.970C>T

4 papers

NM_000251.3

p.S323F

c.968C>T

3 papers

NM_000251.3

p.Q324fs

c.970_971fs

1 paper

NM_000251.3

p.S323delFs

c.969delT

1 paper

NM_000251.3

p.Q324R

c.971A>G