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.Q645delFs

c.1935delA

Surrounding Variants

2 papers

NM_000251.3

p.Q645K

c.1933C>A

8 papers

NM_000251.3

p.Q645E

c.1933C>G

6 papers

NM_000251.3

p.Q645*

c.1933C>T

1 paper

NM_000251.3

p.Q645delFs

c.1933delC

1 paper

NM_000251.3

p.Q645Q

c.1935A>G

1 paper

NM_000251.3

p.D646delFs

c.1936delG

1 paper

NM_000251.3

p.V644I

c.1930G>A

1 paper

NM_000251.3

p.D646N

c.1936G>A

1 paper

NM_000251.3

p.V644fs

c.1930_1931fs

1 paper

NM_000251.3

p.D646fs

c.1936_1937fs

1 paper

NM_000251.3

p.D646delFs

c.1937delA

2 papers

NM_000251.3

p.D646fs

c.1936_1937fs