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

4 papers

NM_000251.3

p.S703Y

c.2108C>A

Surrounding Variants

1 paper

NM_000251.3

p.I704insFs

c.2110dupA

5 papers

NM_000251.3

p.I704_V705del2

c.2110_2114del6

1 paper

NM_000251.3

p.I704_D706delFs

c.2111_2117del7

1 paper

NM_000251.3

p.S703T

c.2107T>A

2 papers

NM_000251.3

p.S703P

c.2107T>C

2 papers

NM_000251.3

p.S703A

c.2107T>G

1 paper

NM_000251.3

p.S703insFs

c.2108_2109insCC

3 papers

NM_000251.3

p.S703delFs

c.2109delC

1 paper

NM_000251.3

p.I704fs

c.2110_2111fs

3 papers

NM_000251.3

p.I704V

c.2110A>G

3 papers

NM_000251.3

p.I704fs

c.2110_2111fs

1 paper

NM_000251.3

p.V702V

c.2106G>A