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.V147A

c.440T>C

Surrounding Variants

2 papers

NM_000251.3

p.V147D

c.440T>A

4 papers

NM_000251.3

p.V147G

c.440T>G

1 paper

NM_000251.3

p.V148delFs

c.442_443delGT

5 papers

NM_001258281.1

p.V81I

c.241G>A

NM_000251.3

p.V147I

c.439G>A

1 paper

NM_000251.3

p.V147insFs

c.441dupT

2 papers

NM_000251.3

p.G149_V150insFs

c.445_448dup4

3 papers

NM_000251.3

p.V148M

c.442G>A

2 papers

NM_000251.3

p.V148L

c.442G>C

1 paper

NM_000251.3

p.V148fs

c.442_443fs

1 paper

NM_000251.3

p.V148insFs

c.443dupT

1 paper

NM_000251.3

p.V148L

c.442G>T

3 papers

NM_000251.3

p.V148delFs

c.443delT