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.K579delFs

c.1737delA

Surrounding Variants

2 papers

NM_000251.3

p.V578V

c.1734T>C

4 papers

NM_000251.3

p.K579insFs

c.1737dupA

2 papers

NM_000251.3

p.E580_I581delFs

c.1738_1741del4

1 paper

NM_000251.3

p.K579E

c.1735A>G

2 papers

NM_000251.3

p.K579*

c.1735A>T

2 papers

NM_000251.3

p.V578D

c.1733T>A

1 paper

NM_000251.3

p.K579insFs

c.1736_1737insGT

19 papers

NM_000251.3

p.K579K

c.1737A>G

2 papers

NM_000251.3

p.E580delFs

c.1738delG

1 paper

NM_000251.3

p.E580_I581del2

c.1738_1742del6

1 paper

NM_000251.3

p.I577_V578Fs

c.1731_1732delinsAGTFs

1 paper

NM_000251.3

p.E580K

c.1738G>A