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.N560delFs

c.1679delA

Surrounding Variants

1 paper

NM_000251.3

p.L559*

c.1676T>A

2 papers

NM_000251.3

p.L559S

c.1676T>C

1 paper

NM_000251.3

p.L559*

c.1676T>G

1 paper

NM_000251.3

p.L559F

c.1677A>T

2 papers

NM_000251.3

p.L559fs

c.1675_1676fs

1 paper

NM_000251.3

p.L559fs

c.1675_1676fs

3 papers

NM_000251.3

p.L559_N560delFs

c.1677_1680del4

1 paper

NM_000251.3

p.N560H

c.1678A>C

3 papers

NM_000251.3

p.N560fs

c.1678_1679fs

1 paper

NM_000251.3

p.N560delFs

c.1680delT

1 paper

NM_000251.3

p.L559insFs

c.1675_1676dupTT

1 paper

NM_000251.3

p.S558F

c.1673C>T