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

16 papers

NM_000251.3

p.D49V

c.146A>T

Surrounding Variants

1 paper

NM_000251.3

p.D49A

c.146A>C

2 papers

NM_000251.3

p.D49G

c.146A>G

2 papers

NM_000251.3

p.D49E

c.147C>A

4 papers

NM_000251.3

p.D49E

c.147C>G

3 papers

NM_000251.3

p.D49N

c.145G>A

1 paper

NM_000251.3

p.D49H

c.145G>C

4 papers

NM_000251.3

p.D49fs

c.145_146fs

2 papers

NM_000251.3

p.D49Y

c.145G>T

3 papers

NM_000251.3

p.D49fs

c.145_146fs

3 papers

NM_000251.3

p.A50T

c.148G>A

2 papers

NM_000251.3

p.E48E

c.144G>A

1 paper

NM_000251.3

p.E48D

c.144G>C