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.F421fs

c.1261_1262fs

Surrounding Variants

1 paper

NM_000179.3

p.F421L

c.1261T>C

1 paper

NM_000179.3

p.F421_D422insT

c.1261_1265ins3

1 paper

NM_000179.3

p.F421delFs

c.1263delT

1 paper

NM_000179.3

p.F421L

c.1263T>A

1 paper

NM_000179.3

p.F421L

c.1263T>G

2 papers

NM_000179.3

p.D422N

c.1264G>A

1 paper

NM_000179.3

p.Q419H

c.1257G>C

1 paper

NM_000179.3

p.Q419H

c.1257G>T

6 papers

NM_000179.3

p.Q419K

c.1255C>A

1 paper

NM_000179.3

p.Q419fs

c.1255_1256fs

1 paper

NM_000179.3

p.L423insFs

c.1269dupT

6 papers

NM_000179.3

p.Q419*

c.1255C>T