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.P349T

c.1045C>A

Surrounding Variants

1 paper

NM_000251.3

p.P349fs

c.1045_1046fs

28 papers

NM_000251.3

p.P349A

c.1045C>G

3 papers

NM_000251.3

p.P349S

c.1045C>T

2 papers

NM_000251.3

p.L350delFs

c.1049_1050delTC

5 papers

NM_000251.3

p.P349H

c.1046C>A

1 paper

NM_000251.3

p.P349insFs

c.1047dupT

34 papers

NM_000251.3

p.P349R

c.1046C>G

27 papers

NM_000251.3

p.P349L

c.1046C>T

1 paper

NM_000251.3

p.P349delins

c.1046_1047delinsGC

4 papers

NM_000251.3

p.P349insFs

c.1046dupC

3 papers

NM_000251.3

p.Q348R

c.1043A>G

1 paper

NM_000251.3

p.Q348K

c.1042C>A