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.N331T

c.992A>C

Surrounding Variants

8 papers

NM_000251.3

p.N331S

c.992A>G

2 papers

NM_000251.3

p.N331fs

c.991_992fs

1 paper

NM_000251.3

p.N331_K332insTA

c.991_995ins6

15 papers

NM_000251.3

p.N331D

c.991A>G

1 paper

NM_000251.3

p.N331fs

c.991_992fs

3 papers

NM_000251.3

p.K332insFs

c.995dupA

1 paper

NM_000251.3

p.K332delFs

c.994delA

1 paper

NM_000251.3

p.K332*

c.994A>T

1 paper

NM_000251.3

p.K332M

c.995A>T

16 papers

NM_000251.3

p.L330P

c.989T>C

1 paper

NM_000251.3

p.L330M

c.988C>A

4 papers

NM_000251.3

p.L330insFs

c.989dupT