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.Q344P

c.1031A>C

Surrounding Variants

1 paper

NM_000251.3

p.Q344delFs

c.1032delG

1 paper

NM_000251.3

p.Q344K

c.1030C>A

18 papers

NM_000251.3

p.Q344*

c.1030C>T

3 papers

NM_000251.3

p.Q344Q

c.1032G>A

6 papers

NM_000251.3

p.Q344H

c.1032G>C

6 papers

NM_000251.3

p.Q344H

c.1032G>T

1 paper

NM_000251.3

p.W345_I346del2

c.1033_1037del6

1 paper

NM_000251.3

p.W345_P349del5

c.1033_1046del15

4 papers

NM_000251.3

p.N343K

c.1029C>A

4 papers

NM_000251.3

p.N343K

c.1029C>G

2 papers

NM_000251.3

p.W345R

c.1033T>A

2 papers

NM_000251.3

p.W345R

c.1033T>C