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.E3022fs

c.9064_9065fs

Surrounding Variants

2 papers

NM_000051.4

p.E3022*

c.9064G>T

7 papers

NM_000051.4

p.E3022delFs

c.9066delA

1 paper

NM_000051.4

p.E3021V

c.9062A>T

1 paper

NM_000051.4

p.E3021K

c.9061G>A

1 paper

NM_000051.4

p.G3023S

c.9067G>A

1 paper

NM_000051.4

p.E3021*

c.9061G>T

2 papers

NM_000051.4

p.G3023fs

c.9067_9068fs

6 papers

NM_000051.4

p.G3023D

c.9068G>A

2 papers

NM_000051.4

p.G3023V

c.9068G>T

1 paper

NM_000051.4

p.T3024_V3025delFs

c.9070_9073del4

2 papers

NM_000051.4

p.T3024_V3025del2

c.9070_9074del6

4 papers

NM_000051.4

p.T3024P

c.9070A>C