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

4 papers

NM_000251.3

p.R55fs

c.163_164fs

Surrounding Variants

1 paper

NM_000251.3

p.R55_E56insFs

c.165_166dupGG

2 papers

NM_000251.3

p.R55fs

c.163_164fs

5 papers

NM_000251.3

p.R55G

c.163C>G

3 papers

NM_000251.3

p.R55W

c.163C>T

7 papers

NM_000251.3

p.E56delFs

c.166delG

1 paper

NM_000251.3

p.R55_K59delFs

c.164_177del14

1 paper

NM_000251.3

p.A54_R55insFs

c.162_163ins4

1 paper

NM_000251.3

p.A54A

c.162C>G

1 paper

NM_000251.3

p.R55_K59delFs

c.163_175del13

4 papers

NM_000251.3

p.R55Q

c.164G>A

1 paper

NM_000251.3

p.R55P

c.164G>C

3 papers

NM_000251.3

p.A54D

c.161C>A