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

121 papers

NM_000251.3

p.R680*

c.2038C>T

Surrounding Variants

1 paper

NM_000251.3

p.R680G

c.2038C>G

7 papers

NM_000251.3

p.R680Q

c.2039G>A

8 papers

NM_000251.3

p.R680P

c.2039G>C

1 paper

NM_000251.3

p.R680delins

c.2039_2040delinsAG

1 paper

NM_000251.3

p.R680delFs

c.2040delA

3 papers

NM_000251.3

p.R680_Q681del2

c.2038_2042del6

2 papers

NM_000251.3

p.R680_G683del4

c.2038_2048del12

1 paper

NM_000251.3

p.Q681delFs

c.2041delC

3 papers

NM_000251.3

p.I679T

c.2036T>C

1 paper

NM_000251.3

p.I679_Q681Fs

c.2036_2042delinsGGFs

4 papers

NM_000251.3

p.I679fs

c.2035_2036fs

1 paper

NM_000251.3

p.I679F

c.2035A>T