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

7 papers

NM_000251.3

p.R621Q

c.1862G>A

Surrounding Variants

2 papers

NM_000251.3

p.R621P

c.1862G>C

7 papers

NM_000251.3

p.R621L

c.1862G>T

1 paper

NM_000251.3

p.R621delFs

c.1863delA

1 paper

NM_000251.3

p.P622_A623insFs

c.1866_1869dup4

1 paper

NM_000251.3

p.R621R

c.1863A>T

2 papers

NM_000251.3

p.P622delFs

c.1865delC

1 paper

NM_000251.3

p.P622delFs

c.1864_1865delCC

1 paper

NM_000251.3

p.R621insFs

c.1862dupG

2 papers

NM_000251.3

p.R621fs

c.1861_1862fs

3 papers

NM_000251.3

p.R621G

c.1861C>G

80 papers

NM_000251.3

p.R621*

c.1861C>T

2 papers

NM_000251.3

p.R621fs

c.1861_1862fs