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

13 papers

NM_000251.3

p.Q593*

c.1777C>T

Surrounding Variants

3 papers

NM_000251.3

p.Q593fs

c.1777_1778fs

1 paper

NM_000251.3

p.Q593delFs

c.1778delA

1 paper

NM_000251.3

p.Q593delFs

c.1778_1779delAG

1 paper

NM_000251.3

p.Q593fs

c.1777_1778fs

1 paper

NM_000251.3

p.Q593R

c.1778A>G

1 paper

NM_000251.3

p.M592I

c.1776G>A

1 paper

NM_000251.3

p.M592I

c.1776G>C

1 paper

NM_000251.3

p.M592I

c.1776G>T

4 papers

NM_000251.3

p.Q593_T594delFs

c.1779_1782del4

2 papers

NM_000251.3

p.Q593H

c.1779G>C

1 paper

NM_000251.3

p.Q593_T594insFs

c.1779_1780insC

2 papers

NM_000251.3

p.Q593H

c.1779G>T