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

2 papers

NM_000251.3

p.I418insFs

c.1252dupA

Surrounding Variants

4 papers

NM_000251.3

p.V417_K423Fs

c.1251_1268delinsAGTTFs

3 papers

NM_000251.3

p.I418fs

c.1252_1253fs

1 paper

NM_000251.3

p.I418L

c.1252A>C

1 paper

NM_000251.3

p.I418V

c.1252A>G

1 paper

NM_000251.3

p.I418L

c.1252A>T

1 paper

NM_000251.3

p.I418fs

c.1252_1253fs

1 paper

NM_000251.3

p.V417A

c.1250T>C

1 paper

NM_000251.3

p.V417G

c.1250T>G

1 paper

NM_000251.3

p.I418delFs

c.1252_1253delAT

3 papers

NM_000251.3

p.V417I

c.1249G>A

3 papers

NM_000251.3

p.V417fs

c.1249_1250fs

1 paper

NM_000251.3

p.V417_I418insG

c.1249_1253ins3