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.M1308T

c.3923T>C

Surrounding Variants

3 papers

NM_000051.4

p.M1308fs

c.3922_3923fs

2 papers

NM_000051.4

p.M1308V

c.3922A>G

65 papers

NM_000051.4

p.A1309T

c.3925G>A

1 paper

NM_000051.4

p.G1307G

c.3921G>A

1 paper

NM_000051.4

p.G1307E

c.3920G>A

1 paper

NM_000051.4

p.A1309A

c.3927A>T

2 papers

NM_000051.4

p.Q1310_E1313del4

c.3928_3938del12

1 paper

NM_000051.4

p.Q1310_K1317del8

c.3928_3950del24

8 papers

NM_000051.4

p.G1307R

c.3919G>A

8 papers

NM_000051.4

p.G1307R

c.3919G>C

1 paper

NM_000051.4

p.G1307W

c.3919G>T

3 papers

NM_000051.4

p.Q1310*

c.3928C>T