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.G630*

c.1888G>T

Surrounding Variants

2 papers

NM_000251.3

p.G630fs

c.1888_1889fs

2 papers

NM_000251.3

p.G630fs

c.1888_1889fs

1 paper

NM_000251.3

p.G630insFs

c.1888dupG

1 paper

NM_000251.3

p.Q629Q

c.1887A>G

3 papers

NM_000251.3

p.G630delFs

c.1888delG

4 papers

NM_000251.3

p.G630E

c.1889G>A

3 papers

NM_000251.3

p.G630insFs

c.1890dupA

1 paper

NM_000251.3

p.G630V

c.1889G>T

1 paper

NM_000251.3

p.R631_L634del4

c.1891_1901del12

2 papers

NM_000251.3

p.G630G

c.1890A>C

47 papers

NM_000251.3

p.Q629R

c.1886A>G

1 paper

NM_000251.3

p.R631_I632del2

c.1891_1895del6