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.L634fs

c.1900_1901fs

Surrounding Variants

1 paper

NM_000251.3

p.L634L

c.1900T>C

1 paper

NM_000251.3

p.L634fs

c.1900_1901fs

1 paper

NM_000251.3

p.L634delFs

c.1901_1902delTA

1 paper

NM_000251.3

p.L634insFs

c.1901dupT

1 paper

NM_000251.3

p.L634delFs

c.1900_1901delTT

5 papers

NM_000251.3

p.L634*

c.1901T>A

6 papers

NM_000251.3

p.L634*

c.1901T>G

1 paper

NM_000251.3

p.K635insFs

c.1904dupA

2 papers

NM_001258281.1

p.K569delFs

c.1706delA

NM_000251.3

p.L634delFs

c.1902delA

2 papers

NM_000251.3

p.L634L

c.1902A>G

1 paper

NM_000251.3

p.I633T

c.1898T>C

1 paper

NM_000251.3

p.I633insFs

c.1897_1898insG