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.E1978V

c.5933A>T

Surrounding Variants

1 paper

NM_000051.4

p.E1978A

c.5933A>C

3 papers

NM_000051.4

p.E1978D

c.5934A>C

3 papers

NM_000051.4

p.E1978D

c.5934A>T

2 papers

NM_000051.4

p.E1978K

c.5932G>A

183 papers

NM_000051.4

p.E1978*

c.5932G>T

1 paper

NM_000051.4

p.E1978fs

c.5932_5933fs

2 papers

NM_000051.4

p.E1979K

c.5935G>A

4 papers

NM_000051.4

p.E1979*

c.5935G>T

1 paper

NM_000051.4

p.E1979A

c.5936A>C

1 paper

NM_000051.4

p.G1980_S1983delFs

c.5939_5948del10

1 paper

NM_000051.4

p.G1980_T1984del5

c.5938_5951del15

2 papers

NM_000051.4

p.F1977S

c.5930T>C