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.L1036L

c.3108G>A

Surrounding Variants

1 paper

NM_000179.3

p.F1037_Y1038delFs

c.3109_3112del4

3 papers

NM_000179.3

p.F1037L

c.3109T>C

1 paper

NM_000179.3

p.L1036P

c.3107T>C

3 papers

NM_000179.3

p.F1037fs

c.3109_3110fs

2 papers

NM_000179.3

p.F1037fs

c.3109_3110fs

1 paper

NM_000179.3

p.L1036fs

c.3106_3107fs

8 papers

NM_000179.3

p.L1036_F1037delFs

c.3108_3109delGT

1 paper

NM_000179.3

p.Y1038insFs

c.3112_3113ins5

4 papers

NM_000179.3

p.F1037L

c.3111C>A

3 papers

NM_000179.3

p.F1037L

c.3111C>G

5 papers

NM_000179.3

p.R1035Q

c.3104G>A

2 papers

NM_000179.3

p.R1035L

c.3104G>T