Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.S682fs

c.2044_2045fs

Surrounding Variants

1 paper

NM_000179.3

p.S682Y

c.2045C>A

1 paper

NM_000179.3

p.S682C

c.2045C>G

3 papers

NM_000179.3

p.S682F

c.2045C>T

1 paper

NM_001281492.2

p.L551_G555del0

c.1653_1664del12

2 papers

NM_000179.3

p.L681fs

c.2041_2042fs

1 paper

NM_000179.3

p.L681V

c.2041C>G

2 papers

NM_000179.3

p.L681F

c.2041C>T

1 paper

NM_000179.3

p.L681delFs

c.2042delT

1 paper

NM_001281492.2

p.L551_C557del0

c.1652_1669del18

1 paper

NM_000179.3

p.A683T

c.2047G>A

2 papers

NM_000179.3

p.L684insFs

c.2050_2051dupCT

2 papers

NM_000179.3

p.A683S

c.2047G>T