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

1 paper

NM_000051.4

p.A1172P

c.3514G>C

Surrounding Variants

1 paper

NM_000051.4

p.A1172S

c.3514G>T

1 paper

NM_000051.4

p.A1172V

c.3515C>T

2 papers

NM_000051.4

p.Q1171H

c.3513G>C

2 papers

NM_000051.4

p.Q1171H

c.3513G>T

1 paper

NM_000051.4

p.Q1171P

c.3512A>C

1 paper

NM_000051.4

p.Q1171fs

c.3511_3512fs

1 paper

NM_000051.4

p.Q1171_A1172insG

c.3511_3515ins3

11 papers

NM_000051.4

p.Q1171*

c.3511C>T

2 papers

NM_000051.4

p.Q1171fs

c.3511_3512fs

1 paper

NM_000051.4

p.L1173L

c.3517T>C

1 paper

NM_000051.4

p.L1173V

c.3517T>G

1 paper

NM_000051.4

p.L1173fs

c.3517_3518fs