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.L687fs

c.2059_2060fs

Surrounding Variants

3 papers

NM_000251.3

p.L687_M688insT

c.2059_2063ins3

9 papers

NM_000251.3

p.L687F

c.2059C>T

2 papers

NM_000251.3

p.L687delFs

c.2060delT

2 papers

NM_000251.3

p.L687fs

c.2059_2060fs

1 paper

NM_000251.3

p.L687delFs

c.2059delC

8 papers

NM_000251.3

p.L687P

c.2060T>C

2 papers

NM_000251.3

p.L687R

c.2060T>G

6 papers

NM_000251.3

p.L687L

c.2061C>G

1 paper

NM_000251.3

p.M688delFs

c.2062_2063delAT

1 paper

NM_000251.3

p.V686insFs

c.2058dupA

1 paper

NM_000251.3

p.M688L

c.2062A>C

5 papers

NM_000251.3

p.M688V

c.2062A>G