Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.S1872N

c.5615G>A

Surrounding Variants

1 paper

NM_000051.4

p.S1872delFs

c.5616delC

1 paper

NM_000051.4

p.S1872C

c.5614A>T

1 paper

NM_000051.4

p.S1872fs

c.5614_5615fs

1 paper

NM_000051.4

p.C1873fs

c.5617_5618fs

1 paper

NM_000051.4

p.C1873fs

c.5617_5618fs

12 papers

NM_000051.4

p.T1871I

c.5612C>T

2 papers

NM_000051.4

p.C1873Y

c.5618G>A

4 papers

NM_000051.4

p.C1873F

c.5618G>T

2 papers

NM_000051.4

p.T1871P

c.5611A>C

1 paper

NM_000051.4

p.C1873*

c.5619T>A

1 paper

NM_000051.4

p.F1870L

c.5610C>A

1 paper

NM_000051.4

p.F1870L

c.5610C>G