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

3 papers

NM_000251.3

p.C176F

c.527G>T

Surrounding Variants

4 papers

NM_000251.3

p.C176Y

c.527G>A

1 paper

NM_000251.3

p.C176S

c.527G>C

10 papers

NM_000251.3

p.C176*

c.528T>A

1 paper

NM_000251.3

p.C176S

c.526T>A

1 paper

NM_000251.3

p.E177insFs

c.529dupG

1 paper

NM_000251.3

p.C176fs

c.526_527fs

1 paper

NM_000251.3

p.C176fs

c.526_527fs

6 papers

NM_000251.3

p.E177K

c.529G>A

1 paper

NM_000251.3

p.L175L

c.525G>A

2 papers

NM_000251.3

p.E177fs

c.529_530fs

5 papers

NM_000251.3

p.E177*

c.529G>T

6 papers

NM_000251.3

p.E177delFs

c.530_531delAA