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

1 paper

NM_000251.3

p.M592fs

c.1774_1775fs

Surrounding Variants

2 papers

NM_000251.3

p.M592_Q593insT

c.1774_1778ins3

1 paper

NM_000251.3

p.M592insFs

c.1774_1775insT

13 papers

NM_000251.3

p.M592V

c.1774A>G

2 papers

NM_000251.3

p.M592K

c.1775T>A

2 papers

NM_000251.3

p.P591Q

c.1772C>A

4 papers

NM_000251.3

p.P591insFs

c.1772_1773insA

1 paper

NM_000251.3

p.P591L

c.1772C>T

1 paper

NM_000251.3

p.M592I

c.1776G>A

1 paper

NM_000251.3

p.M592I

c.1776G>C

1 paper

NM_000251.3

p.M592I

c.1776G>T

4 papers

NM_000251.3

p.Q593_T594delFs

c.1779_1782del4

4 papers

NM_000251.3

p.P591insFs

c.1771_1772insA