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

2 papers

NM_000251.3

p.I648_A649delFs

c.1942_1945del4

Surrounding Variants

2 papers

NM_000251.3

p.I648_F650del3

c.1942_1949del9

1 paper

NM_000251.3

p.I648fs

c.1942_1943fs

1 paper

NM_000251.3

p.I648fs

c.1942_1943fs

2 papers

NM_000251.3

p.E647K

c.1939G>A

1 paper

NM_000251.3

p.E647Q

c.1939G>C

1 paper

NM_000251.3

p.I648insFs

c.1942dupA

3 papers

NM_000251.3

p.E647*

c.1939G>T

3 papers

NM_000251.3

p.I648N

c.1943T>A

1 paper

NM_000251.3

p.I648T

c.1943T>C

1 paper

NM_000251.3

p.D646_A649insFs

c.1938_1945dup8

1 paper

NM_000251.3

p.D646A

c.1937A>C

4 papers

NM_000251.3

p.D646G

c.1937A>G