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.A2A

c.6G>A

Surrounding Variants

1 paper

NM_000251.3

p.A2A

c.6G>C

1 paper

NM_000251.3

p.A2Fs

c.6delinsCCFs

1 paper

NM_000251.3

p.A2A

c.6G>T

1 paper

NM_000251.3

p.A2_V3delins

c.6_7delinsCT

1 paper

NM_000251.3

p.V3_P5delFs

c.8_15del8

3 papers

NM_000251.3

p.A2E

c.5C>A

1 paper

NM_000251.3

p.A2insFs

c.5_6insA

1 paper

NM_000251.3

p.A2insFs

c.6dupG

8 papers

NM_000251.3

p.A2V

c.5C>T

2 papers

NM_000251.3

p.V3M

c.7G>A

6 papers

NM_000251.3

p.V3L

c.7G>C

1 paper

NM_000251.3

p.V3insFs

c.7_8insA